✦ LIBER ✦

Prenatally diagnosed neural tube defects: Ultrasound, chromosome, and autopsy or postnatal findings in 212 cases

✍ Scribed by Kennedy, Debra; Chitayat, David; Winsor, Elizabeth J.T.; Silver, Meredith; Toi, Ants

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 45 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980526)77:4<317::aid-ajmg13>3.0.co;2-l

No coin nor oath required. For personal study only.

✦ Synopsis

From January 1990 until December 1996, 212 cases of neural tube defect (NTD) were seen through the Prenatal Diagnosis Program of the University of Toronto. Of the 212 cases, 200 were karyotyped successfully and of these, 13 (6.5%) had chromosome abnormalities. When classified according to the site of the NTD, 2.3% (2/88) of anencephalics, 7.1% (1/14) of encephaloceles, and 10.2% (10/98) of meningomyeloceles had abnormal karyotypes. The absence of associated ultrasound abnormalities was not necessarily predictive of a chromosomally normal fetus; 4/167 (2.4%) of fetuses with isolated NTDs had chromosome abnormalities. Conversely, 24/33 (72%) of fetuses with additional findings on ultrasound had normal chromosomes. The diagnosis of a chromosome abnormality associated with NTD has important implications for recurrence risk and prenatal diagnosis, not only for the parents but potentially for other relatives. Based on our finding that 6.5% of prenatally detected NTDs are associated with chromosome abnormalities, we recommend karyotyping of all fetuses and/or newborns with NTD.

📜 SIMILAR VOLUMES

Aneuploidy among prenatally detected neu

Aneuploidy among prenatally detected neural tube defects

✍ Hume, Roderick F.; Drugan, Arie; Reichler, Avi; Lampinen, Jenifer; Martin, Laura 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62

Ultraviolet light-related neural tube de

Ultraviolet light-related neural tube defects?

✍ Lapunzina, Pablo 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

Prenatal ultrasonographic description an

Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1

✍ Bejjani, Bassem A.; Oberg, Kerby C.; Wilkins, Isabelle; Moise, Alicia; Langston, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

Atelosteogenesis type 1 (AO1) is a rare lethal chondrodysplasia characterized by incomplete ossification of cartilage anlagen. Histologically, the cartilage contains irregular clusters that occasionally include giant chondrocytes. Pulmonary hypoplasia is a characteristic finding that has been presum

Antenatal and postnatal findings in ence

Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis

✍ Nowaczyk, Ma?gorzata J.M.; Mernagh, John R.; Bourgeois, Jacqueline M.; Thompson, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteris

Ultrasound screening for fetal chromosom

Ultrasound screening for fetal chromosome anomalies

✍ Drugan, Arie; Johnson, Mark P.; Evans, Mark I. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

Ultrasound evidence for aneuploidy may be found in almost every organ of the fetus and can be used to modify the risk of aneuploidy. The diagnosis of these minor anomalies on second-trimester ultrasonography will increase the risk of an abnormal karyotype whereas the absence of these findings may re

Ventriculomegaly with radial and renal d

Ventriculomegaly with radial and renal defects: Prenatal diagnosis in two consecutive sibs

✍ Kovács, Tamás; Csécsei, Károly; Szabó, Mária; Tóth, Zoltán; Veress, Lajos; Papp, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe ventriculomegaly. We compare this apparently autosomal recessive syndrome to VACTERL-H association, Fanconi anemia, and two other, so far unpara