A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders
نویسندگان
چکیده
منابع مشابه
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
BACKGROUND Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; ho...
متن کاملSensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal di...
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We present a case of autosomal recessive polycystic kidney disease diagnosed at 28 weeks’ gestation by ultrasonographic examination and magnetic resonance imaging(MRI). The fetal kidneys were symmetrically enlarged and highly echogenic by ultrasonographic examination and showed high-signal intensity on T2-weighted images by MRI. Cystic leasions were recognized by neither examination. In additio...
متن کاملPrenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound
This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance to the parents and counseling for the consideration of terminating the pregnancy.
متن کاملDiagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
OBJECTIVE Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parental DNA samples to diagnose recessive monogenic disorders in an audit of the first 50 couples referr...
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ژورنال
عنوان ژورنال: Blood
سال: 2019
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.2019002099