Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.

This study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT) between January 2016 and December 2020. Thirty percent (7,860/25,736) of pregnancies received prenatal screening tests for aneuploidies disorders, and 17.8% underwent prenatal diagnosis tests without screening. The highest percentage of screening tests was first-trimester test (64.5%). The high-risk results were 4% for first-trimester test, 6.6% for quadruple test, and 1.3% for NIPT. The serum screening tests for trisomy 13 and 18 had no true positives; therefore, we could not calculate sensitivity. For the first-trimester test, the sensitivity for trisomy 21 was 71.4% (95% confidence intervals (CI) 30.3-94.9); specificity for trisomy 13 and 18 was 99.9% (95% CI 99.8-99.9); and for trisomy 21 was 96.1% (95% CI 95.6-96.7). For the quadruple test, the specificity for trisomy 18 was 99.6% (95% CI 98.9-99.8), while the sensitivity and specificity for trisomy 21 were 50% (95% CI 26.7-97.3) and 93.9% (95% CI 92.2-95.3), respectively. NIPT had 100% sensitivity and specificity for trisomy 13, 18 and 21, and there were neither false negatives nor false positives. For pregnant women < 35 years, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.28 (95% CI 0.12-0.67), 0.28 (95% CI 0.12-0.67), and 0.89 (95% CI 0.54-1.45), respectively. For pregnant women ≥35 years, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.26 (95% CI 0.06-1.03), 2.59 (95% CI 1.67-4.01), and 7.25 (95% CI 5.58-9.41), respectively. For all pregnancies, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.27 (95% CI 0.13-0.57), 0.97 (95% CI 0.66-1.44), 2.80 (95% CI 2.22-3.52), respectively.

Pregnancy outcomes among women affected with thalassemia traits.

OBJECTIVE: To compare the maternal and perinatal outcomes between a group of pregnant women diagnosed with thalassemia traits and normal controls. STUDY DESIGN: A retrospective cohort study was conducted on singleton pregnant women affected and unaffected by thalassemia traits who attended an antenatal care clinic and delivered in Siriraj Hospital. Thalassemia status for all subjects was diagnosed by hemoglobin typing and/or DNA analysis. Patient charts were reviewed from January 2007 to December 2018. The control participants were randomly selected from the same period, with a control-case ratio of around 1:1. RESULTS: Overall, 1288 women with thalassemia traits (348 with α thal-1 trait, 424 with ß thal trait and 516 with HbE trait) and 1305 women in the control group were recruited. Baseline characteristics of both groups were similar, with the exception that the hematocrit level in the first trimester in the thalassemia trait group was significantly lower than that in the control group (34.8 ± 3.4% VS 36.9 ± 3.0%; p < 0.001). The prevalence of pregnancy-induced hypertension (PIH) was higher in the thalassemia trait group, at 6.9% VS 4.7% in the control group; p = 0.018. When subgroups were analyzed between each thalassemia trait, the number of maternal anemias in the first and third trimester was higher for all thalassemia traits compared to the normal group. The ß thal and HbE traits increased the risk of PIH, with a relative risk (RR) = 1.67 and 1.66, respectively. CONCLUSIONS: Thalassemia traits minimally but significantly increase the risk of hypertensive disorders and maternal anemia. In addition, physiological changes during pregnancy may worsen the severity of anemia in the pregnant women with thalassemia traits.

The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry.

Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on survival to discharge (primary outcome) as well as perinatal and neurodevelopmental secondary outcomes. Forty-nine patients were diagnosed prenatally, 11 were diagnosed postnatally, and all 11 spontaneous survivor genotypes had preserved embryonic zeta-globin levels. We compared 3 groups of patients; group 1, prenatally diagnosed and alive at hospital discharge (n = 14), group 2, prenatally diagnosed and deceased perinatally (n = 5), and group 3, postnatally diagnosed and alive at hospital discharge (n = 11). Group 1 had better outcomes than groups 2 and 3 in terms of the resolution of hydrops, delivery closer to term, shorter hospitalizations, and more frequent average or greater neurodevelopmental outcomes. Earlier IUT initiation was correlated with higher neurodevelopmental (Vineland-3) scores (r = -0.72, P = .02). Preterm delivery after IUT was seen in 3/16 (19%) patients who continued their pregnancy. When we combined our data with those from 2 published series, patients who received ≥2 IUTs had better outcomes than those with 0 to 1 IUT, including resolution of hydrops, delivery at ≥34 weeks gestation, and 5-minute appearance, pulse, grimace, activity, and respiration scores ≥7. Neurodevelopmental assessments were normal in 17/18 of the ≥2 IUT vs 5/13 of the 0 to 1 IUT group (OR 2.74; P = .01). Thus, fetal transfusions enable the survival of patients with ATM and normal neurodevelopment, even in those patients presenting with hydrops. Nondirective prenatal counseling for expectant parents should include the option of IUTs.

Survey of intrauterine red blood cell (RBC) transfusion practices in the United States.

BACKGROUND: A paucity of data exists about the current practice of fetal red blood cell (RBC) transfusion in the United States (US). This investigation describes intrauterine transfusion (IUT) RBC product selection and processing practices at different US institutions. METHODS: A transfusion medicine and maternal-fetal medicine (MFM) team designed a survey to interrogate and characterize RBCs utilized for IUT. This survey was distributed to seventy US institutions with fetal treatment centers (October 2020-April 2021) identified through the NAFTNet (North American Fetal Therapy Network). RESULTS: Thirty-seven institutions responded (response rate 53%, 37/70), but five were excluded for not performing IUTs. Most (84%; 27/32) performed 1-24 IUTs annually; two performed >50 IUTs/year. Group O, Rh(D) negative RBC units were always used by 66% (21/32), and 75% (24/32) provided hemoconcentrated RBCs by washing (17/24) or dry packing (6/24). Overall, 66% (21/32) targeted a hematocrit ≥75%. Fifty percent provided both leukocyte-reduced and CMV-negative RBC units. Irradiation of RBC units was performed within 6 h of issue at 63% (20/32) of sites. Most (81%, 26/32) used RBC units at <7 days of age after collection, 56% (18/32) always provided washed RBC units, while 19% (6/32) issued washed RBC only if fresh units are unavailable. Implicated maternal RBC alloantibodies were matched for 78% (25/32) of the time. The transfused volume was universally determined by the MFMs. DISCUSSION: Heterogeneity and lack of standardization exist in RBC product selection and special processing steps for IUTs in the US. Hence, the establishment of a consensus to standardize IUT protocols is needed.

Circulating trophoblast numbers as a potential marker for pregnancy complications.

OBJECTIVE: To explore the potential of circulating trophoblasts (TBs) as a non-invasive tool to assess placental health and predict obstetric complications. METHODS: We retrospectively reviewed maternal characteristics and pregnancy outcomes of 369 women who enrolled in our original cell-based NIPT (cbNIPT) study. The number of circulating TBs recovered from the maternal blood samples was recorded and expressed as fetal cell concentration (FCC). We evaluated if FCC can be used to predict pregnancy outcomes such as hypertensive disorders of pregnancy (HDP), fetal growth restriction, placental abruption, preterm labor, and pregnancy loss. RESULTS: Receiver operating characteristic (ROC) analysis was performed to find the best cut off value to classify FCC into a low and high FCC group, and this cut-off point was calculated as 11.1 cells per 100 ml of blood. The adjusted odds ratio (aOR) for the composite morbidity was significantly increased for the high FCC group at an aOR of 1.6. CONCLUSION: Circulating TB have the potential of predicting obstetrical complications such as HDP. Future studies, with larger sample sizes, should focus on the study of these cells as a biomarker for placental health and a possible screening or diagnostic tool for fetal genetic conditions.

The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing.

OBJECTIVE: To examine the effects of maternal body mass index (BMI) and gestational age (GA) on the number of single circulating trophoblasts (SCT). METHODS: Maternal blood was collected in 20 to 40 mL. All singleton pregnant women at any gestation were recruited. Trophoblasts were recovered by immunomagnetic enrichment and stained for cytokeratin and CD45. Candidate trophoblasts were identified by fluorescence microscopy. RESULTS: Blood samples were collected from 425 singleton pregnancies from April 2018 to December 2019. At least one candidate cell was identified in 88% (373/425). There was an inverse correlation between trophoblasts yield and increasing BMI (r = -0.19, P < .001). The mean ± SD number of trophoblasts/mL was 0.12 ± 0.22 in the underweight group (n = 5), 0.23 ± 0.25 in the normal weight (n = 169), 0.18 ± 0.19 in the overweight (n = 114), and 0.13 ± 0.15 in the obese (n = 109). Significantly more cells were identified in the normal weight than those in the obese (P = .001). In addition, the mean ± SD number of cells/mL was 0.21 ± 0.21 at GA of 10 to 14 weeks (n = 260), 0.14 ± 0.23 at GA ≥15 (n = 102) and 0.12 ± 0.12 at GA <10 (n = 63); P < .001. CONCLUSION: The lower number of SCT was identified from the samples of women with a high BMI. Cell recovery for SCT testing seems optimal at GA of 10 to 14 weeks, but earlier and later testing is still possible.

Clinical performance of DNA-based prenatal screening using single-nucleotide polymorphisms approach in Thai women with singleton pregnancy.

BACKGROUND: To review the performance of noninvasive prenatal screening (NIPS) using targeted single-nucleotide polymorphisms (SNPs) approach in mixed-risk Thai women. METHODS: Retrospective analysis of data for detection of trisomy 21 (T21), 18 (T18), 13 (T13), monosomy X (XO), other sex chromosome aneuploidies (SCA), and triploidy/vanishing twins (VT) from a single commercial laboratory. RESULTS: Mean (±SD) gestational age and maternal weight were 13.2 (±2.1) weeks and 125.7 (±22.4) pounds, respectively (n = 8,572). From 462/8,572 (5.4%) no-calls; 1/462 (0.2%) was uninformative SNPs, and 1/462 chose amniocentesis. Redraw settled 323/460 (70%) samples with low fetal fraction (FF); and 8,434/8,572 (98.4%) were finally reportable, with 131 high risks (1.6%). The median (min-max) FF of reportable (n = 8,434) and unreportable samples (n = 137) samples were 10.5% (2.6-37.9) and 3.8% (1-14.1), respectively (p < .05). Fetal karyotypes were available in 106/131 (80.9%) and 52/138 (37.7%) high risk and repeated no-calls, respectively. The positive predictive values (PPVs) for T21 (n = 47), T18 (n = 15), T13 (n = 7), XO (n = 8), other SCA (n = 7), and triploidy/VT were 94%, 100%, 58.3%, 66.7%, 70%, and 57.1%, respectively. None of repeated no-calls had aneuploidies. CONCLUSION: SNP-based NIPS has high PPVs for T21 and T18. Although the proprietary SNPs library is not population-specific, uninformative SNPs are uncommon.

Comparison of change in body weight between contraception containing 30-µg ethinylestradiol/2-mg chlormadinone acetate or 30-µg ethinylestradiol/3-mg drospirenone: a randomised controlled trial.

Objectives: The aim of this study was to compare changes in body weight in women using a combined oral contraceptive (COC) consisting of 30-µg ethinylestradiol (EE) and 2-mg chlormadinone acetate (CMA) or a COC consisting of 30-µg EE and 3-mg drospirenone (DRSP).Methods: This randomised double-blind controlled trial (ClinicalTrials.gov NCT01608698) was conducted at a university hospital-based clinic in Thailand between June 2012 and September 2015. A total of 102 women were enrolled in the study, 99 of whom were randomised to EE/CMA (n = 45) or EE/DRSP (n = 54). Each participant was treated for six cycles. Body weight and other parameters as well as side effects were recorded at baseline and at the end of the third and sixth cycles of treatment.Results: A significant difference was observed in mean body weight change between the EE/CMA and EE/DRSP groups from both baseline to third cycle (0.51 ± 1.36 kg vs -0.43 ± 1.56 kg; p = .003) and baseline to sixth cycle (1.00 ± 1.84 kg vs -0.20 ± 2.23 kg; p = .013). The mean difference in body mass index and waist circumference had a similar trend to that of the mean difference in body weight. There was no significant difference in side effects between groups.Conclusion: A COC containing 30-µg EE/3-mg DRSP tended to confer a significantly more favourable change in body weight over a 6-month period compared with a COC containing 30-µg EE/2-mg CMA, which was associated with an increase in body weight.

Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins.

A 29-year-old nulliparous woman with a dichorionic diamniotic (DCDA) twin pregnancy was referred to our hospital at 16 weeks' gestation for prenatal diagnosis. She was diagnosed of Haemoglobin H Constant Spring (Hb H CS; --SEA/αCSα) and her husband of alpha thalassemia-1 trait (--SEA/αα). Detailed ultrasound showed that left twin had fetal anaemia and early signs of hydrops while the right one was normal. Both twins were female. Amniocentesis in each sac was performed for prenatal diagnosis of thalassemia after a proper counselling with the couple. DNA analysis confirmed that the left fetus was affected with haemoglobin Bart's hydrops fetalis (--SEA/--SEA) while the right one was alpha thalassemia-1 trait (--SEA/αα). Selective feticide with intracardiac injection of KCl was successfully performed on the hydropic fetus. Identification of the affected fetus is crucial for selective termination. Family counselling about the procedure and complications is also necessary.

Prevalence and associating factors of sexual dysfunction in women who use intrauterine device (IUD) for contraception.

OBJECTIVE: To study the prevalence and associating factors of sexual dysfunction in Thai women using contraception with intrauterine device (IUD). MATERIAL AND METHOD: A cross-sectional study was conducted in IUD users at the Family Planning Unit, Siriraj Hospital. Data were recruited between October 2012 and June 2013. The participants answered the questionnaires to collect demographic, obstetric-gynecological data, and female sexual function index (FSFI) score. RESULTS: Two hundred seventy one IUD users participated in this study. The mean age was 32.1 +/- 7.1 years old, mean body mass index (BMI) was 24.1 +/- 5.3 kg/m2. The prevalence of sexual dysfunction in IUD users was 50.9%. The associating factor that affected the sexual dysfunction significantly was observed in BMI group (p-value 0.033). Subgroup analysis illustrated that the underweight group had more sexual dysfunction. The lowest FSFI score was observed in the underweight group. The score was 23.50 +/- 4.52. The significant domains were found to be desirable and arousal domains. CONCLUSION: The prevalence of female sexual dysfunction in the period after IUD using was 50.9%. The BMI was a significant associating factor Underweight women showed higher trend of sexual dysfunction than other group, especially in the desire and arousal domain.