Prevalence of fetal anomalies, stillbirth, neonatal morbidity, or mortality in pregnancies complicated by placenta accreta spectrum disorders.

INTRODUCTION: Placenta accreta spectrum disorders (PAS) lead to major complications in pregnancy. While the maternal morbidity associated with PAS is well known, there is less information regarding neonatal morbidity in this setting. The aim of this study is to describe the neonatal outcomes (fetal malformations, neonatal morbidity, twin births, stillbirth, and neonatal death), using an international multicenter database of PAS cases. MATERIAL AND METHODS: This was a prospective, multicenter cohort study based on prospectively collected cases, using the international multicenter database of the International Society for PAS, carried out between January 2020 and June 2022 by 23 centers with experience in PAS care. All PAS cases were included, regardless of whether singleton or multiple pregnancies and were managed in each center according to their own protocols. Data were collected via chart review. Local Ethical Committee approval and Data Use Agreements were obtained according to local policies. RESULTS: There were 315 pregnancies eligible for inclusion, with 12 twin pregnancies, comprising 329 fetuses/newborns; 2 cases were excluded due to inconsistency of data regarding fetal abnormalities. For the calculation of neonatal morbidity and mortality, all elective pregnancy terminations were excluded, hence 311 pregnancies with 323 newborns were analyzed. In our cohort, 3 neonates (0.93%) were stillborn; of the 320 newborns delivered, there were 10 cases (3.13%) of neonatal death. The prevalence of major congenital malformations was 4.64% (15/323 newborns), most commonly, cardiovascular, central nervous system, and gastrointestinal tract malformations. The overall prevalence of major neonatal morbidity in pregnancies complicated by PAS was 47/311 (15.1%). There were no stillbirths, neonatal deaths, or fetal malformations in reported twin gestations. CONCLUSIONS: Although some outcomes may be too rare to detect within our cohort and data should be interpreted with caution, our observational data supports reassuring neonatal outcomes for women with PAS.

Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.

BACKGROUND: Uniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of different chromosomes remain unclear. OBJECTIVE: To assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and clinical outcomes. STUDY DESIGN: We retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and September 2022. The relationship between prenatal ultrasound findings, the involved chromosome(s), and clinical outcomes was evaluated. RESULTS: During the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (88.2%) had uniparental disomy occurring on a single chromosome, while four (11.8%) were identified with uniparental disomy on different chromosomes. The most frequently involved chromosomes were chromosomes 16, X and 2, which presented in 8 (23.5%), 5 (14.7%) and 4 (11.8%), respectively. Prenatal ultrasound abnormalities were detected in 21 fetuses, with the most common category being multiple abnormalities (12 (57.1%)). Fetal growth restriction was identified in 14 (41.2%) fetuses, all of which coexisted with other abnormal findings. The rate of adverse perinatal outcomes in patients with uniparental disomy and fetal abnormalities was significantly higher than those without abnormalities (76.2% versus 15.4%, P = 0.002). The incidence of fetal or neonatal death was significantly higher in fetuses with fetal growth restriction than those without (85.7% versus 30.0%, P = 0.004). CONCLUSIONS: The prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without.

Pregnancy outcomes of normal karyotype fetuses with increased nuchal translucency.

Background: Although the association between first-trimester increased nuchal translucency (NT) and chromosomal defects is well-defined, there is little knowledge about the importance of increased NT in fetuses with normal karyotypes. Hence, this study was designed to evaluate outcomes of normal karyotype fetuses with increased NT. Methods: This observational retrospective study was conducted on 720 pregnancies with increased NT (>3mm) at 11 to 13 weeks of gestational age in Yas Hospital, Tehran, Iran, from 2016 to 2020. Study outcomes were incidence of preeclampsia, intrauterine growth restriction) IUGR (, preterm labor, fetal anomaly, cardiac malformations, hydrops fetalis, abortion, and intrauterine fetal death (IUFD) in pregnancies without evident chromosomal karyotype abnormalities. Results: Out of 720 participants who underwent karyotyping in the study center, 523 fetuses had normal karyotype results. In the pregnancies assessed for outcome, 357 (68.3%) reached live birth, 104 (19.9%) aborted, and 62 (11.9%) resulted in IUFD. Study outcomes including preeclampsia (<0.001), IUGR (<0.001), preterm labor (<0.001), fetal anomaly (<0.001), cardiac malformations (<0.001), hydrops fetalis (0.017), abortion (<0.001), and IUFD (<0.001) resulted in a statistically significant difference in the distribution of cases across NT intervals. Conclusion: This study demonstrated adverse pregnancy outcomes increased with increasing NT despite normal karyotyping. Hence, tight observation of mothers and fetuses should be done in normal karyotype fetuses with increased NT.

Ultrasound diagnosis of a retroperitoneal fetus in fetu: A case report.

Fetus in fetu (FIF) is a rare anomaly of diamniotic monochorionic twins, where a malformed fetus resides within the body of its twin. Most FIF occurs in the retroperitoneal region around the host spine and appears prenatally as a solid-cystic mass consisting of fetal-like structures. Imaging has an important role in the diagnosis of FIF. The present study reported a single case, a 45-year-old woman, with a teratoma in a third-trimester fetus diagnosed after prenatal ultrasonography (US), which showed a mass containing fetus-like echoes. FIF was considered after the US showed that the mixed solid-cystic retroperitoneal mass around the vertebral axis of the host fetus consisted of two separate masses, each containing distinct fetal visceral structures. One fetus was acardiac and the other parasitic fetus was visible with a weak heartbeat. Postpartum magnetic resonance imaging and ultrasonography (US) scans of the newborn showed a retroperitoneal cystic space-occupying mass with distinctive limbs and visceral structures. The pathological examination further confirmed the diagnosis of retroperitoneal FIF. Also, a prenatal US could detect FIF in utero. A cystic-solid mass containing long bones, vascular pedicles, or visceral structures around the vertebral axis of the host fetus in the US might suggest the possibility of a FIF.

The decision-making process of pregnant individuals offered termination of pregnancy for serious congenital abnormalities.

OBJECTIVES: This study aimed to explore the decision-making process of patients with pregnancies affected by serious congenital abnormalities. METHODS: The study design was an exploratory qualitative study. The sample for this study was pregnant individuals who had a prenatal diagnosis of a serious congenital abnormality and were offered termination of pregnancy. Semi-structured face-to-face interviews with closed and open-ended questions, recorded and transcribed verbatim, were used to collect the data; this was then analyzed using a thematic data analysis approach. RESULTS: Five topics were developed: "Health care services", "Home", "Being a mother", "Finding meaning", and "The aftermath". The first four topics describe the decision-making process where the participants filtered through multiple factors to reach their final decision. Although the participants consulted with their families, partners, and community, they made the final decision themselves. The final topics describes activities which were necessary for closure and coping. CONCLUSION: This study has provided valuable insight into the decision-making process, which can be used to improve services offered to patients. PRACTICE IMPLICATIONS: Information should be communicated clearly with follow-up appointments to discuss further. Healthcare professional should show empathy and assure the participants that their decision is supported.

Retrospective analysis of 2054 cases from 24 hospitals underwent ultrasonic consultation in a tertiary prenatal diagnosis center in Beijing, China.

OBJECTIVES: To investigate the practices of prenatal ultrasound consultation in a region of the China and to describe the rate of concordance between the suspected anomaly and the final diagnosis of the referral examination. METHODS: Retrospective study with all cases referred from 24 hospitals (Beijing, China) to a tertiary prenatal diagnosis center for ultrasonic consultation in 2018. The concordance between the suspected ultrasonic signs of fetal abnormalities of the referrer and the ultrasonic consultation results were evaluated and divided into full concordance, partial concordance, and discordance. RESULTS: From 1938 patients with suspected ultrasonic signs, 2054 ultrasound consultation records were obtained. The most frequent anomalies for consultation in the first trimester (348, 91.3%) were cystic hygroma (CH), nuchal translucency (NT), or nuchal fold (NF) thickening, followed by signs of brain abnormalities in the second (173, 22.4%) and the third (182, 34.1%) trimester. The discordant rates of the first single signs were 19.8% for the first trimester, 41.6% for the second trimester, and 37.4% for the third trimester, respectively. CONCLUSIONS: Our study demonstrated that the discordance of the first single signs was relatively low in the first trimester and higher in the second and third trimesters. The number of sonographers could be increased to ensure timeliness, strengthen training for those with poor concordance rates by referring to appropriate guidelines, and reduce ultrasonic consultation for those with high consistency after further research to save medical resources.

Perceived Value of Prenatal Ultrasound Screening: A Survey of Pregnant Women.

INTRODUCTION: Routine prenatal screening ultrasounds primarily serve to diagnose major fetal anomalies which may prompt further testing and inform clinical decision-making, including possible pregnancy termination. Meanwhile, expectant parents may view the ultrasound experience and information gained differently from their clinicians. In this setting, how to best counsel patients, especially regarding the increasing findings of indeterminant clinical significance, is unclear. Greater understanding of women's views before undergoing their ultrasound may help to guide anticipatory counseling about the purpose of screening and interpretation of results. METHODS: We surveyed 289 patients presenting for scheduled prenatal ultrasounds at an academic tertiary care center. Discrete and open-ended questions assessed views surrounding the receipt of abnormal results and management of the pregnancy once fetal anomalies are detected. Qualitative responses were analyzed using thematic analysis. RESULTS: Most (95%) desired information about abnormal sonographic findings, although only half would consider pregnancy termination for anomalies. Reasons for wanting return of abnormal results included preparedness, valuing knowledge, and to a lesser extent, informing decision-making. When considering potential termination as a result of ultrasound findings, participants' rationales demonstrated deontological (seeing termination as inherently impermissible or permissible), relational (duties arising from the role of being a mother), and consequentialist (weighing harms and benefits) reasoning. CONCLUSION: This study highlights women's perceptions of prenatal ultrasounds as an inherently valuable source of information and preparedness, beyond their role in informing clinical decision-making. Identifying the ethical constructs underpinning patients' perspectives may help direct development of counseling tools responsive to individual needs and values regarding prenatal ultrasound findings.

Abnormal growth and morphogenesis of placenta at term is linked to adverse fetal development after perigestational alcohol consumption up to early gestation in mouse.

BACKGROUND: Gestation alcohol consumption produces fetal growth restriction and malformations by affecting the embryo-fetal development. Recently a relationship between abnormal placentation and fetal malformation and intrauterine growth retardation has been suggested. However, the effects of perigestational alcohol ingestion up to early pregnancy on the placenta at term and its association with fetal abnormalities are little known. METHODS: In female mice, ethanol 10% in water was administered for 15 days previous and up to days 4 (D4), 8 (D8), or 10 (D10) of gestation (TF), and gestation continues without ethanol exposure. Control females (CF) received ethanol-free water. At day 18, feto-placental units and implantation sites were studied. RESULTS: TF had increased resorptions and only fetuses from D8-TF and D10-TF had significantly increased weights versus CF. D4 and D10-TF-placentas had significantly reduced weights. All TF had increased junctional zone (JZ) and reduced labyrinth (Lab) areas (PAS-histology and morphometry) compared with CF. Fetuses with mainly with craniofacial abnormalities and skeletal defects (Alizarin red staining), significantly increase; while the fetal bone density (alizarin color intensity, ImageJ) was reduced in D4, D8 and D10-TF versus CF. Although all TF-placentas were histo-structural affected, TF-abnormal fetuses had the most severe placental anomalies, with junctional abundant glycogenic cells into the labyrinth, disorganized labyrinthine vascularization with signs of leukocyte infiltrates and feto-maternal blood mix. CONCLUSIONS: Perigestational alcohol consumption up to early gestation induces at term fetal growth alterations, dysmorphology and defective skeleton, linked to deficient growth and abnormal morphogenesis of placenta, highlighting insight into the prenatal etiology of FASD.

Incidence and predictors of paternal anxiety and depression following fetal abnormalities requiring pregnancy termination: a cross-sectional study in China.

BACKGROUND: China is a country with a high prevalence of fetal abnormalities. Termination of pregnancy for fetal abnormalities (TOPFA) is a devastating traumatic event for parents and families, resulting in serious and lasting psychological problems. The impact of TOPFA on mothers has been extensively explored, but little research has been conducted on the resulting paternal psychological problems. This study sought to determine the prevalence and predictors of paternal anxiety and depression following TOPFA. METHODS: We analysed cross-sectional data from 169 Chinese couples (169 mothers and 169 fathers) who experienced TOPFA. Anxiety was assessed with the Self-Rating Anxiety Scale (SAS), and depression was measured with the Self-Rating Depression Scale (SDS) for fathers and the Edinburgh Postnatal Depression Scale (EPDS) for mothers. We used the Social Support Rating Scale (SSRS) to assess levels of social support. RESULTS: Overall, 19.5% of fathers and 24.3% of mothers had symptoms of anxiety, but there was no significant difference in the incidence of anxiety between fathers and mothers. However, depression was more common in mothers (50.3%) than in fathers (24.9%). Level of income (ß = -2.945, 95% CI: -5.448 to -0.442), worry about the pregnancy (ß = 3.404, 95% CI: 1.210 to 5.599) and objective support (ß = -0.668, 95% CI: -1.163 to -0.173) were predictors of anxiety in fathers. Worry about the pregnancy (ß = 4.022, 95% CI: 1.630 to 6.414), objective support (ß = -0.652, 95% CI: -1.229 to -0.075) and maternal depression (ß = 0.497, 95% CI: 0.159 to 0.836) were predictors of paternal depression. CONCLUSION: Anxiety and depression were prevalent among parents following TOPFA in China, and fathers had similar levels of anxiety as mothers. Strategies to support fathers should consider social support and psychological interaction and draw upon father-inclusive intervention recommendations.

Prenatal diagnosis of diphallia in association with bladder exstrophy: a case report.

BACKGROUND: Penile duplication or diphallia is a rare congenital anomaly with unclear pathophysiological cause. Most cases of diphallia are reported postnatally; however, today with the use of a high-resolution ultrasound device, in-uterine diagnosis of many congenital anomalies is possible. CASE PRESENTATION: Herein we report a multiparous mother at 25 weeks of gestation who referred due to an abnormal cystic structure protruding from a large abdominal wall defect located below the umbilicus that was noted during a routine exam. Target scan revealed two penile-like protrusions with an empty scrotal sac and double bladder in an otherwise normal fetus, which was confirmed postnatally. Neonatal microarray study and karyotype were normal. CONCLUSION: Diphallia could be detected prenatally as an isolated anomaly, associated with caudal duplication syndrome, or as an exstrophy-epispadias complex. As this is a rare congenital anomaly, all sonographers should be familiar with prenatal ultrasound features and associated anomalies, an important issue in prenatal counseling with parents, delivery planning, psychological support of the family, and postnatal management.

Fetal Hand Abnormalities in the First-Trimester Scan: A Report of Two Cases.

Two cases of fetal hand abnormalities are presented in this report. The first one is a case of unilateral fetal syndactyly detected in the first trimester routine scan, resulting in the early diagnosis of a severe genetic condition by invasive testing and early termination of pregnancy. By doing so, we ensured that the woman was managed in the most appropriate way. In the second case, we describe a fetus with bilateral hand polydactyly, which was combined with a cardiac defect - incompatible with extrauterine life. This was once again diagnosed during the first trimester scan. An uncomplicated termination of pregnancy was achieved in the first trimester of pregnancy.

Feasibility of Fetal Portal Venous System Ultrasound Assessment at the FT Anomaly Scan.

OBJECTIVE: To investigate the feasibility of the first trimester (FT) ultrasound scan (US) for the evaluation of the fetal portal venous system (PVS) anatomy, and to evaluate the potential of microcopy for a proper pathology evaluation for the PVS in the FT. METHODS: We evaluated the PVS in 200 scan examinations performed in FT pregnancy. Half of the cases were scanned by two operators with extensive experience in obstetric ultrasound-Group I, and the other half was evaluated by two sonographers with less experience-Group II. Second-trimester US and autopsy in terminated pregnancies were used as follow-up. The pathologic evaluation was supported by microscopy. RESULTS: all PVS features were successfully assessed by transabdominal ultrasound (TAUS) in 27% of the Group I cases and 14% in Group II. These rates increased to 88% in Group I and in 72% in Group II, after rescanning and using transvaginal ultrasound (TVUS). The conditions that led to rescanning and TVUS were: BMI greater than 24 in 26% cases, unfavorable fetal position (12.32%), retroverted uterus (12.32%), abdominal scar (10.96%), fibroids (4.11%), and combinations of the above (34.23%). The L-shaped UV confluence was identified transabdominally in 91% in Group I and in 79% in Group II and increased to 98% and 95%, respectively, following reevaluations. Microscopy represented a useful audit in all FT investigated cases. CONCLUSIONS: At the end of the FT, the visualization of a normal L-shaped UV confluence, that excludes major PVS abnormalities, is achievable in approx. 80%, indifferently the examiners experience. The sonographers experience, pregnant women BMI, and uterine anomalies as fibroids or retroversion significantly affect the rate of visualization, and necessitates vaginal approach and reexamination. The FT pathology, the audit of the ultrasound findings can only be performed microscopically, with relatively little resources involved and good results.

Tonate Virus and Fetal Abnormalities, French Guiana, 2019.

We report a case of vertical transmission of Tonate virus in a pregnant woman from French Guiana. The fetus showed severe necrotic and hemorrhagic lesions of the brain and spinal cord. Clinicians should be made aware of possible adverse fetal outcomes in pregnant women infected with Tonate virus.

Feasibility Analysis of 3D Printing With Prenatal Ultrasound for the Diagnosis of Fetal Abnormalities.

OBJECTIVE: To assess the feasibility and accuracy of 3D printing with prenatal three-dimensional ultrasound (3DUS) in the diagnosis of fetal abnormalities. METHODS: Fetuses initially diagnosed with various abnormalities were included in this retrospective study. The fetuses were examined by 3DUS, modeled, and 3D printed, and the dimensional accuracy of the 3D prints was analyzed. The effectiveness, demand, necessity of 3D printing, and the diagnostic accuracy of different methods were analyzed based on questionnaire responses from 40 senior ultrasound doctors and 40 postgraduate students. RESULTS: A total of 12 fetuses with cleft lip and palate, spinal, heart, or brain abnormalities were included for detailed assessment. All deviations (mean deviation: 0.1 mm) between the original images and the final 3D prints lay within the consistency boundary (-1.12, 1.31 mm) (P > .05). In the subsequent analyses, 90.8% of the doctors and 94.2% of the students strongly agreed that 3D printing could precisely represent and depict fetal abnormalities. The average misdiagnosis rate of the doctors decreased from 5% to 0.4% after the application of 3D printing combined with 3DUS in comparison with 3DUS alone, and the corresponding value for the students dropped from 17.9% to 5.2%. CONCLUSIONS: The errors in modeling and 3D printing based on 3DUS were within acceptable limits, and 3D printing improved the diagnosis of various fetal abnormalities.

Rational Design and Evaluation of the Recombinant Multiepitope Protein for Serodiagnosis of Rubella.

BACKGROUND: Rubella is an infection caused by rubella virus (RV) and is generally regarded as a mild childhood disease. The disease continues to be of public health importance mainly because when the infection is acquired during early pregnancy, it often results in fetal abnormalities, which are classified as congenital rubella syndrome (CRS). An accurate diagnosis of rubella is thus of pivotal importance for proper treatment. OBJECTIVES: The aim of the study was to produce a recombinant multiepitope protein (rMERUB) for the diagnosis of rubella, based on conserved immunodominant epitopes of glycoprotein E1 and E2. METHODS: A synthetic gene was designed and cloned into vector pET21a with a 6xHis tag at the Cterminal for affinity purification and overexpressed in Escherichia coli cells. Biophysical analysis of rMERUB was performed by circular dichroism. Biological activity was assessed using an in-house ELISA assay. RESULTS: Expression in Escherichia coli showed a ~22 kDa protein that was purified and used to perform structural assays and an IgG ELISA. Structural analyses reveal that rMERUB has a ß leaf pattern that promotes the exposure of epitopes, thus allowing antibody recognition. Evaluation of 33 samples (22=positive; 11=negative) was performed using in-house ELISA and this was compared with a commercial kit. The sensitivity was 100% (95% CI: 85-100) and specificity 90.91% (95% CI: 62-99). Excellent agreement (Kappa index = 0.9) was obtained between ELISA assays. CONCLUSION: The careful choice of epitopes and the high epitope density, coupled with simple-step purification, pinpoints rMERUB as a promising alternative for rubella diagnosis, with potential for the development of a diagnostic kit.

Navigating abortion law dilemmas: experiences and attitudes among Ethiopian health care professionals.

BACKGROUND: Ethiopia's 2005 abortion law improved access to legal abortion. In this study we examine the experiences of abortion providers with the revised abortion law, including how they view and resolve perceived moral challenges. METHODS: Thirty healthcare professionals involved in abortion provisions in Addis Ababa were interviewed. Transcripts were analyzed using systematic text condensation, a qualitative analysis framework. RESULTS: Most participants considered the 2005 abortion law a clear improvement-yet it does not solve all problems and has led to new dilemmas. As a main finding, the law appears to have opened a large space for professionals' individual interpretation and discretion concerning whether criteria for abortion are met or not. Regarding abortion for fetal abnormalities, participants support the woman's authority in deciding whether to choose abortion or not, although several saw these decisions as moral dilemmas. All thought that abortion was a justified choice when a diagnosis of fetal abnormality had been made. CONCLUSION: Ethiopian practitioners experience moral dilemmas in connection with abortion. The law places significant authority, burden and responsibility on each practitioner.

[Asynchronous Tele-Expertise (ASTE) in obstetrical ultrasound: Is it equivalent to face-to-face consultation?] / La Télé-Expertise asynchrone (TEAS) en échographie obstétricale : est-ce équivalent à la consultation en présentiel ?

INTRODUCTION: The demand for remote advice has expanded since the advent of information and communication technology. This study aims to evaluate the use of asynchronous tele-expertise (ASTE) in providing a quality expert opinion in the field of obstetric ultrasound. MATERIALS AND METHODS: Requests for expert opinions on pregnant patients were considered retrospectively over a 24-month period (01/09/2018 to 01/21/2020). All patients were initially seen in consultation with a midwife sonographer, located in Hyères, 82km from the expert's centre. In the event of unusual images, including one or more malformations on ultrasound screening, a second opinion was necessary. Responses were characterized as follows : possible or impossible to analyse images; ASTE alone or combined with a face-to-face consultation; and absence or presence of unusual images. Unusual images were classified as normal variants or recognised malformations. We analysed the outcomes of these pregnancies and assessed concordance between prenatal advice and postnatal outcome. RESULTS: During the study period, we identified 174 referrals from 141 patients. Requests for advice were made by 3/174 (1.7%), 69/174 (39.7%), and 102/174 (58.6%) in the first, second, and third trimester of pregnancy, respectively. Overall, 115/141 (81.6%), 21/141 (14.9%), 4/141 (2.8%), and 1/141 (0.7%) patients were provided with one, two, three, and five opinions, respectively. In total, 37/141 (26.2%) patients required a face-to-face consultation, resulting in 38/174 (21.8%) opinions (one patient was seen twice). At least one unusual image was found for 27/141 (19.2%) patients and no unusual images were reported for 114/141 (80.8%) patients. Analysis of the pregnancy outcomes revealed a perfect correlation between prenatal advice and postnatal data, both for cases with unusual images and those without. CONCLUSION: The preliminary results of our study reveal that ASTE is safe in terms of enabling an expert to answer a precise question formulated by a screener when confronted with images deemed to be unusual. Using this mode of communication, a tailored healthcare pathway may be defined for the mother and her foetus. This new type of practice cannot exist without establishing a genuine relationship of trust between the person requesting the opinion and the person who is asked to provide the opinion.

Third trimester ultrasound. A long-standing debate.

Third trimester ultrasound has long been in obstetrics a topic of debate. This issue is framed in a historical debate on the effectiveness of routine obstetrical ultrasound and two opposing trends originated in America and Europe, respectively. Primary function of this ultrasound has been to detect fetal growth restriction, but no study has shown evidence of improving perinatal outcomes. Other secondary functions are detection of fetal abnormalities or evaluation of fetal presentation, and they have also shown no evidence. Despite the continuous appearance of works in this regard, health policies of both american and european trends have not been modified. Future seems to show a prolongation of the stalemate. Those health systems with a universal third trimester policy should propose an optimization of the test, in order to improve the benefits and obtain data for future studies that could resolve this longstanding debate.

The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China.

BACKGROUND: To assess the indications and complications of late amniocentesis and the advanced genetic test results in a tertiary university fetal medical medicine unit. METHODS: In this retrospective study, women that underwent amniocentesis at 24+ 0 to 39+ 4 weeks, between January 2014 and December 2019, were recruited. Indications, complications, genetic test results, and pregnancy outcomes were reported for each pregnancy and compared with those who underwent the traditional amniocentesis at 16+ 0 to 23+ 6 weeks (control group). Information was retrieved from patient medical records, checked by research staff, and analyzed. RESULTS: Of the 1287 women (1321 fetuses) included in the late amniocentesis group, late detected sonographic abnormalities (85.5%) were the most common indication. The overall incidence of preterm birth and intrauterine demise after amniocentesis were 2.5 and 1.3%, respectively. Sixty-nine fetuses with aneuploidy (5.3%) and seventy-two fetuses with pathogenic copy number variations (5.5%) were identified by chromosomal microarray analysis. The maximal diagnostic yield (70%) was in the subgroup of fetuses with the abnormal diagnostic test results, followed by abnormal NIPT results (35.7%) and multiple abnormalities (23.8%). And 35.4% of the pregnancies were finally terminated. CONCLUSIONS: Due to the high detection rates of advanced genetic technologies and the safety of the invasive procedure (3.9% vs 4.0%), it is reasonable to recommend late amniocentesis as an effective and reliable method to detect late-onset fetal abnormalities. However, chromosomal microarray and whole-exome sequencing may result in uncertain results like variants of uncertain significance. Comprehensive genetic counseling is necessary.