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1.
J Matern Fetal Neonatal Med ; 30(3): 251-256, 2017 Feb.
Article in English | MEDLINE | ID: mdl-27018243

ABSTRACT

OBJECTIVE: To identify risk factors for mediolateral episiotomy, and evaluate the risk of obstetrical anal sphincter injury (OASI) among women with an episiotomy. METHODS: A retrospective cohort study of all singletons vaginal deliveries at term between 2007 and 2014. Spontaneous and operative vaginal deliveries were compared separately, as well as nulliparous and multiparous women. RESULTS: Overall, 41,347 women were included in the spontaneous vaginal delivery group: 12,585 (30.4%) nulliparous and 28,762 (69.6%) multiparous women. Risk factors for episiotomy (nulliparous) were maternal age (aOR 0.98), gestational age (GA, aOR 1.07), regional analgesia (RA, aOR 1.18), labor induction (aOR 1.17), meconium (aOR 1.37) and birth weight (BW, aOR 1.04). Episiotomy was associated with PPH (aOR 1.49). Among multiparous, risk factors were maternal age (aOR 1.04), previous vaginal delivery (aOR 0.38), GA (aOR 1.06), RA (aOR 1.22), meconium (aOR 1.22) and BW (aOR 1.05). Episiotomy was associated with 3rd degree perineal tear (aOR 2.26, 95% CI 1.03-4.97). Only birth weight (nulliparous) and previous vaginal deliveries (multiparous) were contributors for episiotomy in the OVD group. CONCLUSION: Several risk factors for mediolateral episiotomy exist. Episiotomy does not protect nulliparous women, and may be associated with an increased risk for multiparous, for OASI. Therefore, the practice of routine episiotomy should be abandoned, and the practice of selective episiotomy reconsidered.


Subject(s)
Anal Canal/injuries , Episiotomy/adverse effects , Obstetric Labor Complications/etiology , Adult , Episiotomy/statistics & numerical data , Female , Humans , Logistic Models , Outcome Assessment, Health Care , Pregnancy , Retrospective Studies , Risk Factors
2.
Fetal Diagn Ther ; 37(1): 37-43, 2015.
Article in English | MEDLINE | ID: mdl-25139702

ABSTRACT

OBJECTIVE: To determine whether maternal features affect the accuracy of sonographic estimated fetal weight (SEFW) by evaluating the consistency of the systematic error of SEFW with regards to the birth weight (BW) in two consecutive pregnancies of the same gravida. METHODS: The cohort included women with SEFW within 1 week of delivery (32-42 weeks' gestation) in two consecutive singleton pregnancies from 2007 to 2012. The systematic error was calculated as (SEFW - BW)/BW × 100 and expressed as a percentage of the BW. RESULTS: A total of 636 pregnancies (318 gravidas) were eligible for analysis. The BW and SEFW were correlated in both first examined (r = 0.873, p < 0.001) and consecutive (r = 0.843, p < 0.001) pregnancies. There was a significant difference in mean systematic error between first examined and consecutive pregnancies (3.13 ± 8.95 vs. 0.34 ± 8.75%, p < 0.001), with a very weak correlation between the two (r = 0.135, p = 0.16). Nulliparity or multiparity at the first examined pregnancy was not found to be a significant factor, and in both groups the error was higher in the first examined pregnancy. There were no significant differences between parturients with a minor (10% and below) or major (>10%) difference in the systematic error between the two pregnancies. CONCLUSION: The systematic error between the SEFW and BW in two consecutive pregnancies is inconsistent, suggesting that it is unaffected by maternal biometric features.


Subject(s)
Birth Weight/physiology , Fetal Weight/physiology , Ultrasonography, Prenatal , Adult , Female , Gestational Age , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Trimester, Third , Young Adult
3.
Int J Gynaecol Obstet ; 125(2): 141-3, 2014 May.
Article in English | MEDLINE | ID: mdl-24507888

ABSTRACT

OBJECTIVE: To compare approval rates of late termination of pregnancy (LTOP) requests before and after a policy change in Israel in late 2007. METHODS: In a retrospective study, LTOP requests and board decisions from 2002-2007 (group 1) were compared with those from 2007-2012 (group 2) at 3 university-affiliated medical centers in Israel. Reasons for application, approval, or rejection were compared between the groups. RESULTS: There were 552 applications for LTOP. The overall approval rate for LTOP and the specific approval rate per medical indication did not differ significantly between the groups. The rate of requests due to confirmed genetic anomalies decreased from 18.4% in group 1 to 11.3% in group 2 (P=0.03). Compared with group 1, the rate of rejection for intrauterine infection increased from 8.3% to 26.3% (P=0.2), and that for pregnancy complications decreased from 62.5% to 35.0% (P=0.2) in group 2 but these differences were not statistically significant. Requests due to structural anomalies were declined because they were considered to be minor cardiac, renal, cerebral, or skeletal anomalies. CONCLUSION: The more stringent 2007 criteria for approving requests for LTOP did not affect the rate of rejection of requests due to structural anomalies between the 2 time periods.


Subject(s)
Abortion, Eugenic/trends , Health Policy , Patient Selection , Congenital Abnormalities/diagnosis , Cytomegalovirus Infections/diagnosis , Female , Genetic Diseases, Inborn/diagnosis , Gestational Age , Humans , Israel , Pregnancy , Pregnancy Complications, Infectious/diagnosis , Pregnancy Trimester, Second , Pregnancy Trimester, Third , Prenatal Diagnosis , Retrospective Studies
4.
Harefuah ; 152(6): 340-3, 368, 2013 Jun.
Article in Hebrew | MEDLINE | ID: mdl-23885466

ABSTRACT

BACKGROUND: Fetal autopsies are effective in identifying the cause and/or mechanisms leading to death in cases of intrauterine fetal death. Autopsies for fetal anomalies are different. OBJECTIVE: To summarize our experience with 569 autopsies of fetal anomalies which were performed during an 18-year period. METHODS: A retrospective analysis of 569 autopsies of fetal anomalies was conducted, out of a total of 1067 fetal autopsies. The pregnancy weeks were 14 - 41. RESULTS: Among 569 cases, 88% were termination of pregnancies, 10% intrauterine death and 2% perinatal deaths. The diagnosis of a syndrome or disease process was made when a constellation of gross and/or histologic findings was met. Specific diagnoses were offered in cases of cystic diseases of kidneys, types of dwarfism, tumors and fetal hydrops. Teratogenic (acquired) processes, such as congenital infections, thrombosis and cerebral hemorrhages, were differentiated from malformations. In cases of multiple congenital anomalies, documentation of the entire spectrum of malformations facilitated the genetic counseling. DISCUSSION: First and foremost, the autopsy is performed in the interest of the parents, with their written consent and in accordance with limitations and requests which they pose. Autopsy results provide feedback to the prenatal imaging. They assist in focusing the genetic counseling. Autopsy reports provide tools of control for the health authorities. Autopsies for fetal anomalies are time consuming. They require skill and experience. They are helpfuL when the prenatal diagnosis raises differential diagnosis. They are Less helpful when the diagnosis is clear, i.e. chromosomal trisomy.


Subject(s)
Autopsy , Congenital Abnormalities/physiopathology , Fetus/abnormalities , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/physiopathology , Congenital Abnormalities/diagnosis , Female , Fetal Death/etiology , Gestational Age , Humans , Pregnancy , Retrospective Studies
5.
Harefuah ; 150(11): 857-61, 874, 2011 Nov.
Article in Hebrew | MEDLINE | ID: mdl-22428208

ABSTRACT

Pregnancy surveillance in the western world focuses on the second and third trimesters. Recently, a few studies demonstrated that several pregnancy outcomes can be predicated by first trimester screening, especially in the time period between 11 + 0 to 13 + 6 weeks of gestation. These outcomes include the risk of developing preeclampsia, small for gestational age (SGA) and macrosomic fetuses, risk of abortion or intrauterine fetal death, risk of preterm labor and the risk of developing gestational diabetes. This review focuses on these findings and examines if it is feasible to expand the nuchal translucency and first trimester biochemical screening that is customary in Israel, so it may include additional parameters to predict those pregnancy outcomes.


Subject(s)
Mass Screening/methods , Pregnancy Complications/diagnosis , Pregnancy Outcome , Female , Humans , Nuchal Translucency Measurement/methods , Pregnancy , Pregnancy Complications/epidemiology , Pregnancy Complications/etiology , Pregnancy Trimester, First , Prenatal Diagnosis/methods , Risk Factors
6.
Early Hum Dev ; 86(1): 59-63, 2010 Jan.
Article in English | MEDLINE | ID: mdl-20117889

ABSTRACT

BACKGROUND: Placental morphology and pregnancy outcome differ between normal pregnancies and those with foetal growth restriction (FGR). Most reports do not differentiate among different placental injury patterns related to foetal growth restriction. AIMS: To evaluate placental and perinatal findings in growth restricted pregnancies based on three placental injury patterns: maternal and foetal blood supply abnormalities, and villitis of unknown aetiology, compared to those of preeclampsia (PE) and normal pregnancies. STUDY DESIGN: Retrospective review. SUBJECTS: 65 growth restricted newborns and their placentas. OUTCOME MEASURES: Comparison of the clinical perinatal characteristics and outcomes, placental pathology and the number of syncytiocapillary membranes in the terminal villi, of the 65 FGR cases with 13 pregnancies complicated with preeclampsia (PE), and 25 uncomplicated pregnancies as controls, at 34-40weeks gestation. RESULTS: The most common injury patterns of FGR placentas were maternal underperfusion (66%) (group 1), foetal blood supply abnormality (17%) (group 2), and villitis of unknown aetiology (17%) (group 3). The rate of induced labours was the highest in group 1 but the rate of operative deliveries due to suspected foetal asphyxia was the highest in group 2 (p<0.05). In the FGR cases, inverse relationship was found between birth weight and the number of syncytiocapillary membranes (r=-0.31, p<.05) in the maternal underperfusion FGR cases (group 1) only. CONCLUSIONS: The different injury patterns in placentas of FGR patients may be correlated to different clinical outcomes. Placental examination in FGR pregnancies can provide a specific pathophysiologic explanation that may recur in subsequent pregnancies and lead to changes in follow-up and management.


Subject(s)
Fetal Growth Retardation/pathology , Placenta/blood supply , Placenta/pathology , Birth Weight , Female , Fetal Growth Retardation/physiopathology , Humans , Infant, Newborn , Male , Placenta/physiopathology , Placenta Diseases/pathology , Placenta Diseases/physiopathology , Pregnancy , Retrospective Studies
7.
Fetal Diagn Ther ; 25(3): 346-8, 2009.
Article in English | MEDLINE | ID: mdl-19776600

ABSTRACT

Prenatal diagnosis of oral cystic lesions is rare but is reported more frequently. The diagnosis of sublingual cyst is important because of the potential for airway obstruction. A rare case of a foregut duplication cyst associated with unilateral sclerocorneal microphthalmia is reported. The differential diagnosis and the limitations of the prenatal ultrasound and the postnatal MRI are discussed.


Subject(s)
Cysts/diagnostic imaging , Mouth Diseases/diagnostic imaging , Adult , Corneal Diseases/pathology , Cysts/congenital , Cysts/pathology , Female , Humans , Magnetic Resonance Imaging , Mouth Diseases/congenital , Mouth Diseases/pathology , Pregnancy , Scleral Diseases/pathology , Ultrasonography, Prenatal
8.
Arch Gynecol Obstet ; 280(3): 509-11, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19219444

ABSTRACT

PURPOSE: Description and evaluation of the sonographic changes at the site of the myomectomy and follow-up of the healing process. METHODS: Twelve patients with intramural fibroids underwent myomectomy. Pre- and postoperative ultrasound examinations included measurements of uterine volume and the largest diameters of the largest fibroid and the myomectomy scar. RESULTS: The mean uterine preoperative volume was 773 cm(3) (range 271-1,343) (SD 285). It decreased postoperatively to 318 cm(3) (range 98-756) (SD 192) and 185 cm(3) (range 78-420) (SD 96) in the immediate and late scans, respectively. The mean size of the largest diameter of the largest fibroid was 10 cm (range 7-15) (SD 2.3). The largest diameter of the immediate postoperative myomectomy site was 4.5 cm (range 2.2-8) (SD 1.8) decreasing later to 2.4 cm (range 0-6) (SD 1.6). CONCLUSION: The postoperative sonographic findings following myomectomy demonstrates a solid finding that may mistakenly be interpreted as the remaining fibroid that shrinks gradually. The finding is probably the result of changes in hyperplastic myometrial tissue, focal small hematomata and suture material.


Subject(s)
Cicatrix/physiopathology , Leiomyoma/surgery , Uterine Neoplasms/surgery , Uterus/diagnostic imaging , Wound Healing/physiology , Adult , Female , Humans , Ultrasonography , Uterus/physiology
9.
Am J Perinatol ; 26(5): 379-82, 2009 May.
Article in English | MEDLINE | ID: mdl-19067280

ABSTRACT

We sought to determine the incidence of cord entanglement around any part of fetal body during early gestation using three-dimensional (3D) sonography. A prospective consecutive study was designed and 3D ultrasound was performed. Two hundred thirty-seven singleton pregnancies between 13 and 16 weeks were included. Cord entanglement was defined when one or more of the following was detected: cord around neck, hand, leg, thorax, abdomen, shoulder. We considered cord entanglement when one or more loops of cord encircled any part of body. Free-floating cord through all its length in the amniotic fluid was defined as free cord. Cord entanglement was observed in 149 (62.9%) patients. Of those, 64 (42.9%) cords were entangled around necks, 23 (15.4%) around legs, 19 (12.7%) around hands, 7 (4.8%) around abdomens, 36 (24.2%) around other body parts (thorax, shoulder, and pelvis). The incidence of total cord entanglement was similar between 13 and 16 weeks' gestation and was between 60 and 65%. The incidence of early pregnancy cord entanglement was 62.9%. According to the literature, this incidence is higher in comparison to the incidence of cord entanglement later in pregnancy. Therefore, this phenomenon may be considered a part of normal early fetal development.


Subject(s)
Nuchal Cord/diagnostic imaging , Nuchal Cord/epidemiology , Ultrasonography, Prenatal , Cohort Studies , Female , Gestational Age , Humans , Incidence , Israel/epidemiology , Pregnancy , Pregnancy Trimester, Second , Pregnancy Trimester, Third , Prospective Studies
10.
J Clin Ultrasound ; 36(1): 1-5, 2008 Jan.
Article in English | MEDLINE | ID: mdl-17924576

ABSTRACT

PURPOSE: To evaluate different ovarian volume cut-off values to distinguish between normal ovaries, benign lesions, and malignant lesions in menopausal women. METHODS: Transvaginal sonographic ovarian volume measurements were performed in 362 menopausal patients prior to gynecologic surgery. Based on the histopathologic results, a total of 466 ovaries were divided into 3 groups: normal ovary, benign lesion, and malignant tumor. Different ovarian volume cut-off values were analyzed via receiver operating characteristic curves to determine the optimal cut-off value. RESULTS: The mean ovarian volumes in the normal ovary, benign lesion, and malignant tumor groups were 3.4 +/- 2.2 cm3 (range, 0.6-9.6 cm3), 102 +/- 308 cm3 (range, 0.3-3543 cm3), and 368 +/- 1176 cm3 (range, 8.1-9908) cm3, respectively. Cut-off values of 8 cm3 and 10 cm3 to distinguish between malignant and nonmalignant lesions had a sensitivity of 100% and 97% and a specificity of 39% and 45%, respectively. CONCLUSION: In menopausal patients, any ovary with a volume >8 cm3 can potentially harbor a cancer.


Subject(s)
Ovarian Neoplasms/diagnostic imaging , Ovarian Neoplasms/prevention & control , Ovary/diagnostic imaging , Ovary/pathology , Female , Humans , Mass Screening/standards , Menopause , Middle Aged , Organ Size , Sensitivity and Specificity , Ultrasonography
11.
J Clin Ultrasound ; 34(6): 278-82, 2006.
Article in English | MEDLINE | ID: mdl-16788959

ABSTRACT

PURPOSE: To describe the sonographic appearance of the uterine cavity in women after administration of mifepristone and misoprostol for termination of pregnancy. METHODS: Thirty-six women treated with mifepristone 600 mg followed by misoprostol 400 mug 2 days later for termination of pregnancy were the subjects of the study. Gestational age as calculated from the last menstrual period was < or =49 days. Pretreatment sonographic parameters, including gestational sac size and crown-rump length, were measured. The sonographic appearance of the uterine cavity was recorded and documented 6 hours (T-1) and 14 days (T-2) after administration of misoprostol. RESULTS: The mean menstrual age of the patients was 42 days (range 31-49 days). The mean gestational age according to crown-rump length was 43 days (range 40-48 days). Sonographic examination performed atT-1 revealed 23 patients (62.9%) with a well-defined echogenic mass located in the uterine cavity, 2 patients (5.5%) with an intrauterine sac containing a nonviable embryo, and 11 patients (30.5%) with an endometrium thickness of 7-14 mm with no evidence of intrauterine contents. Doppler flow signals were detected in 15 of the 23 patients (65.2%) with an echogenic intrauterine mass. Sonographic examination performed at T-2 revealed 19 patients (52.8%) with a persistent echogenic intrauterine mass; Doppler flow could be detected in 15 of these patients (78.9%). Dilatation and curettage was required in 2 patients (5.6%) due to failure of treatment; all others regained normal menses. CONCLUSIONS: An intrauterine echogenic mass with well-defined borders, with or without Doppler flow signals, can be detected 2 weeks after administration of mifepristone and misoprostol for termination of pregnancy. Because most of the women in our study regained normal menses without further surgical intervention, this finding could indicate remnants of trophoblastic tissue evacuated spontaneously from the uterine cavity. Therefore, dilatation and curettage should be avoided in these cases, unless clinical symptoms or signs necessitate surgical intervention.


Subject(s)
Abortifacient Agents, Nonsteroidal/administration & dosage , Abortifacient Agents, Steroidal/administration & dosage , Abortion, Induced , Mifepristone/administration & dosage , Misoprostol/administration & dosage , Uterus/diagnostic imaging , Adolescent , Adult , Female , Humans , Pregnancy , Pregnancy Trimester, First , Prospective Studies , Ultrasonography
12.
J Matern Fetal Neonatal Med ; 17(2): 157-9, 2005 Feb.
Article in English | MEDLINE | ID: mdl-16076626

ABSTRACT

A detailed sonographic at 37 weeks of gestation performed due to non-reassuring fetal monitor of a breech presentation fetus detected a solid right lobe hepatic tumor. Prenatal gray scale and Doppler sonography suggested a diagnosis of hepatoblastoma which was confirmed postnatally. Differential ultrasonographic diagnosis of fetal hepatic tumors is discussed.


Subject(s)
Fetal Diseases/diagnostic imaging , Hepatoblastoma/diagnostic imaging , Liver Neoplasms/diagnostic imaging , Adult , Female , Humans , Infant, Newborn , Pregnancy , Ultrasonography, Prenatal
13.
J Clin Ultrasound ; 33(1): 10-3, 2005 Jan.
Article in English | MEDLINE | ID: mdl-15690441

ABSTRACT

PURPOSE: The aim of the study was to evaluate the contribution of gray-scale sonography and Doppler flow studies in differentiating between uterine sarcomas of different histologic types and leiomyomas. PATIENTS AND METHODS: The study included 111 patients, divided retrospectively into 2 groups: 98 patients with leiomyomas and 13 with postoperative diagnosis of uterine sarcoma. This latter group was further divided into a group of 6 patients with uterine leiomyosarcoma and 7 with malignant mixed mesodermal tumor. The gray-scale sonograms and Doppler parameters in the 3 groups were compared. RESULTS: The patients with leiomyomas were younger than those with sarcomas (52 years +/- 11 versus 65 years +/- 15, p < 0.05). No differences were noted between the 3 groups regarding gravidity, parity, symptoms upon admission, or findings during physical examination. The sonographic appearances of the leiomyomas were similar to those of the leiomyosarcomas, but in 6/7 cases, they were different from those of the malignant mixed mesodermal tumors. There was a significant difference between the mean resistance index in arterioles of the leiomyomas (0.59 +/- 0.01) and that of the malignant mixed mesodermal tumors (0.41 +/- 0.06) (P < 0.001) but not between those of the leiomyomas and the leiomyosarcomas (0.49 +/- 0.18). CONCLUSIONS: Doppler flow studies may assist in differentiating between leiomyomas and malignant mixed mesodermal tumors but not between leiomyomas and leiomyosarcomas.


Subject(s)
Leiomyoma/diagnostic imaging , Leiomyosarcoma/diagnostic imaging , Sarcoma/diagnostic imaging , Uterine Neoplasms/diagnostic imaging , Age Factors , Aged , Diagnosis, Differential , Female , Humans , Leiomyoma/pathology , Leiomyosarcoma/pathology , Middle Aged , Retrospective Studies , Sarcoma/pathology , Sensitivity and Specificity , Ultrasonography, Doppler , Uterine Neoplasms/pathology
14.
J Clin Ultrasound ; 32(5): 219-24, 2004 Jun.
Article in English | MEDLINE | ID: mdl-15124187

ABSTRACT

PURPOSE: This study was conducted to assess the combination of endometrial thickness, as measured by transvaginal sonography, and time since menopause, in predicting the presence of endometrial cancer in women with postmenopausal bleeding. METHODS: The study group consisted of 95 women with postmenopausal bleeding who underwent sonographic measurement of endometrial thickness followed by endometrial biopsy. No patient had ever received hormone replacement therapy. RESULTS: The mean endometrial thickness was significantly lower in the absence of endometrial carcinoma (6.9 +/- 4.3 mm) than in its presence (13.5 +/- 7.7 mm) (p < 0.005). The incidence of endometrial carcinoma increased with increases in endometrial thickness and the number of years since menopause. No patient had carcinoma when the endometrium was less than 5 mm thick, but 18.5% did when the thickness exceeded 9 mm. The incidence of cancer was 2.6% in women who had undergone menopause less than 5 years earlier but was 21.4% in women who had undergone menopause more than 15 years prior. Multiple logistic regression analysis showed that time since menopause and endometrial thickness were statistically significant predictors of endometrial carcinoma. CONCLUSIONS: Time since menopause and endometrial thickness together define cutoff points for the diagnostic biopsy of tissue samples for endometrial carcinoma; that is, within a particular time interval, sampling should not be performed if the thickness is below a given value. When using cutoff points of 6 mm of endometrial thickness for women experiencing menopause 5-15 years prior and 5 mm in those going through menopause 15 or more years prior, approximately 60% of invasive procedures may be avoided. In addition, models derived by multiple logistic regression can be used to calculate a patient's risk of cancer based on her age and endometrial thickness.


Subject(s)
Endometrial Hyperplasia/diagnostic imaging , Endometrial Hyperplasia/pathology , Endometrial Neoplasms/diagnostic imaging , Endometrial Neoplasms/pathology , Postmenopause , Uterine Hemorrhage/etiology , Aged , Aged, 80 and over , Biopsy , Diagnosis, Differential , Endometrial Hyperplasia/complications , Endometrial Neoplasms/complications , Female , Humans , Hysteroscopy , Middle Aged , Odds Ratio , Polyps/complications , Polyps/diagnostic imaging , Polyps/pathology , Predictive Value of Tests , Sensitivity and Specificity , Ultrasonography , Uterine Diseases/complications , Uterine Diseases/diagnostic imaging , Uterine Diseases/pathology
15.
J Clin Ultrasound ; 32(3): 107-14, 2004.
Article in English | MEDLINE | ID: mdl-14994250

ABSTRACT

The purpose of this review article is to evaluate the current method of sonographic measurement of ovarian volume as a means of diagnosing ovarian tumors in postmenopausal women, in whom an ovarian volume greater than 10 ml is generally considered abnormal. After reviewing the general medical literature, we propose a nomogram of ovarian volume that may be used to determine whether an ovary is abnormal. Furthermore, on the basis of our previous results, we recommend that a cutoff point for ovarian volume that is adjusted to patient age be used to determine whether an ovary is abnormal. We recommend the use of such nomograms in routine clinical practice to assist physicians in identifying abnormality of the ovaries during sonographic examination.


Subject(s)
Ovarian Neoplasms/diagnostic imaging , Ovary/diagnostic imaging , Postmenopause , Early Diagnosis , Female , Humans , Ovarian Neoplasms/pathology , Ovary/pathology , Ultrasonography
16.
Prenat Diagn ; 22(1): 34-7, 2002 Jan.
Article in English | MEDLINE | ID: mdl-11810647

ABSTRACT

We describe two newborn sisters who presented in the third trimester with diminished fetal movements and skin edema, but with no other signs of hydrops fetalis. Within hours of birth, both developed profound lactic acidemia, followed by multi-organ failure. In muscle mitochondria, the activity of all enzymatic complexes that contain mitochondrial DNA (mtDNA)-encoded subunits was markedly decreased. Southern blot analysis revealed a profound reduction in the mtDNA/nuclear DNA ratio, implying mtDNA depletion. The prenatal identification of skin edema in two patients with mtDNA depletion, and its absence in a healthy sibling, suggest that skin edema should be regarded as a novel manifestation of mtDNA depletion. This finding shows that mtDNA depletion can present prenatally and, consequently, may aid the clinician in making a diagnosis, prenatally, of this genetic defect.


Subject(s)
DNA, Mitochondrial/analysis , Edema/diagnostic imaging , Fetal Diseases/diagnostic imaging , Fetal Diseases/diagnosis , Skin , Ultrasonography, Prenatal , Consanguinity , DNA/analysis , Female , Fetal Movement , Gestational Age , Humans , Infant, Newborn , Lactic Acid/blood , Mitochondria, Muscle/chemistry , Multiple Organ Failure/genetics , Pregnancy
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