Background: Prenatal esophageal atresia (EA) diagnosis may improve outcomes by optimizing prenatal and postnatal care. This study evaluated the feasibility of direct antenatal visualization normal longitudinal sections using two-dimensional ultrasound between 21 23 gestational weeks. Methods: A detailed anatomic survey was performed, followed dedicated imaging. The latter performed as follows: ...

On the accuracy of prenatal 3D ultrasound of cleft hard palate when cleft lip is present Bäumler MA, Faure JM, Bigorre M, Bäumler-Patris C, Boulot P, Demattei C, Captier G. Ultrasound Obstet Gynaecol 2011 Jan 12 Epub. Of 79 cases with prenatal diagnosis of uni or bilateral cleft a correct diagnosis using axial 3D scanning was made in 77. All cases were verified at birth. The sensitivity of dete...

A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her p...

Neural tube defects are the major targets of prenatal diagnoses, along with Down syndrome. Prenatal diagnosis of spina bifida is possible at second trimester of gestation through α-fetoprotein and acetylcholinesterase biochemistry assays and ultrasound. In particular, the discovery of characteristic intracranial signs on ultrasound leads to a very high diagnosis rate. However, it is rare for sp...

A 29-week fetus was noted to have dilation of the entire ventricular system on prenatal ultrasound. Fetal MRI at 33 weeks revealed brain malformations suggestive of congenital muscular dystrophy (figure, A and B).1,2 Following normal delivery at 40 weeks, examination was remarkable for retinal detachment (figure, D) and optic nerve hypoplasia, without dysmorphic features. Sequence analysis show...

Facial clefts are among the most common congenital anomalies, with a point prevalence of approximately 1:500 to 1:1000 live births.1,2 Prenatal detection and diagnosis has been recognised as useful to facilitate prenatal counselling, to evaluate genetic risks, and to prepare the parents psychologically to accept and plan for neonatal surgery after birth. To improve the evaluation of these defec...

OBJECTIVE To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyoty...

BACKGROUND To evaluate the clinical association of extrastructurally abnormal chromosomes (ESACs) with pregnancy outcome based on the cytogenetic characteristics of the ESACs. METHODS We retrospectively reviewed 12 ESAC cases identified from 12,991 cases who received genetic amniocentesis between January 1983 and March 2008. Prenatal ultrasound findings, characteristics of ESACs (karyotypes, ...

Mowat-Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS-related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.