Down syndrome

SE Antonarakis, BG Skotko, MS Rafii… - Nature Reviews …, 2020 - nature.com
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …

[HTML][HTML] Prenatal diagnosis: screening and diagnostic tools

LM Carlson, NL Vora - Obstetrics and gynecology clinics of North …, 2017 - ncbi.nlm.nih.gov
Approximately 3% to 5% of pregnancies are complicated by birth defects or genetic
disorders. 1 Chromosomal abnormalities are present in approximately 1 in 150 live births, 2 …

Unbalanced placental expression of imprinted genes in human intrauterine growth restriction

J McMinn, M Wei, N Schupf, J Cusmai, EB Johnson… - Placenta, 2006 - Elsevier
Imprinted genes control fetal and placental growth in mice and in rare human syndromes,
but the role of these genes in sporadic intrauterine growth restriction (IUGR) is less well …

Gastroschisis: international epidemiology and public health perspectives

EE Castilla, P Mastroiacovo… - American Journal of …, 2008 - Wiley Online Library
Gastroschisis offers the intriguing epidemiological situation of a pandemic, strongly
associated with very low maternal age. Identifying gastroschisis, and distinguishing it from …

[HTML][HTML] Congenital cystic lesions of the lung: congenital cystic adenomatoid malformation and bronchopulmonary sequestration

AK Sfakianaki, JA Copel - Reviews in obstetrics and gynecology, 2012 - ncbi.nlm.nih.gov
Congenital cystic lesions of the lung in fetuses are rare. The most common malformations of
the lower respiratory tract are congenital cystic adenomatoid malformation and …

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

IM Orioli, E Amar, J Arteaga‐Vazquez… - American Journal of …, 2011 - Wiley Online Library
Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are
replaced by a single midline limb. This study describes the prevalence, associated …

Zika virus and pregnancy: a review of the literature and clinical considerations

C Marrs, G Olson, G Saade, G Hankins… - American journal of …, 2016 - thieme-connect.com
The latest Zika virus (ZIKV) outbreak has reached epidemic proportions as it spreads
throughout South and Central America. In November 2015, the Brazilian Ministry of Health …

[HTML][HTML] Biliary cysts: etiology, diagnosis and management

B Jabłońska - World journal of gastroenterology: WJG, 2012 - ncbi.nlm.nih.gov
Biliary cysts (BC) are rare dilatations of different parts of a biliary tract. They account for
approximately 1% of all benign biliary diseases. BC occur the most frequently in Asian and …

Prediction and prevention of recurrent stillbirth

UM Reddy - Obstetrics & Gynecology, 2007 - journals.lww.com
Stillbirth is one of the most common adverse pregnancy outcomes in the United States,
occurring in one out of every 200 pregnancies. There is a paucity of information on the …

The natural history of prenatally diagnosed conjoined twins

TC MacKenzie, TM Crombleholme, MP Johnson… - Journal of pediatric …, 2002 - Elsevier
Background/Purpose: Accurate prenatal diagnosis of complex anatomic connections and
associated anomalies has only been possible recently with the use of ultrasonography …