Objective: To study the value of prenatal ultrasound in the diagnosis of fetal malformations.
Methods: We retrospectively analyzed the clinical data of 993 cases of neonates and induced babies with malformations who were labored in our hospital from January 1999 to October 2006.
Results: The incidence rate of fetal malformation was 22.5 per thousand in our study group. The detection rate of prenatal ultrasound was 79.02% (1 062/1 344), among which the detection rate of the severe malformations (87.58%, 860/982) were significantly higher than that of the minor malformations (55.80%, 202/362) (P < 0.005). The false negative rate was high for the extremity malformations (39.46%) and facial malformations (31.91%), especially the acrosclerodermas, simple cleft palates, and ear deformities.
Conclusion: Prenatal ultrasound is sensitive for fetal severe malformations, while the detection rate is low for fetal minor malformations.
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Acta Obstet Gynecol Scand
January 2025
Department of Gynecology and Obstetrics, Federal University of Goiás (UFG), Goiânia, Brazil.
Introduction: Intrauterine devices (IUDs) are highly effective contraceptives. Despite their effectiveness, pregnancies can occur during IUD use, and the management of such cases, particularly when the pregnancy is desired, remains controversial.
Material And Methods: We conducted a systematic review and meta-analysis to evaluate outcomes in women who unintentionally conceived while using IUDs and chose to continue their pregnancies.
Radiol Case Rep
March 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, NY, USA.
Extensive congenital pulmonary airway malformation (CPAM) of the left fetal lung and associated marked dextroposition of the fetal heart were noted at 21 weeks' gestation. The right fetal lung appeared compressed with the cardiomediastinal shift angle measuring approximately 20 degrees. Potential subsequent right pulmonary hypoplasia was considered.
View Article and Find Full Text PDFInt Med Case Rep J
January 2025
Department of Obstetrics and Gynecology, Universitas Padjadjaran, Bandung, Indonesia.
Vasa previa is a condition where unprotected fetal vessels, neither by placenta nor umbilical cord, lie within the membranes over the internal cervical ostium and beneath the presenting part of the fetus. Due to this condition, the membranous vessels pose a higher risk of being compressed or ruptures and could lead to fetal demise, exsanguination, or even fetal death. In this case report, we reported a case of a 36-year-old woman, G3P2A0, at term gestation and oblique lie.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
December 2025
Fetal Medicine Unit, St George's Hospital, London, UK.
Objective: To evaluate whether, in late pregnancy, the cerebral Doppler can identify very small fetuses that are less likely to experience intrapartum compromise (IC).
Material And Methods: This was a retrospective study of 282 singleton pregnancies that underwent an ultrasound scan at 32 + 0- 40 + 6 weeks and were delivered after induction, or spontaneous onset of labor. Very small fetuses were defined as fetuses with estimated weight less than the 3rd centile.
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