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Prenatal Diagnosis: Congenital Anomalies

Prenatal Diagnosis: Congenital Anomalies diagram by Kateryna Kon, Shutterstock
Kateryna Kon, Shutterstock

Prenatal diagnosis has enabled the detection of chromosomal abnormalities as well as single gene disorders and led to substantive improvements in the detection of congenital anomalies. Here is the latest research.

Top 20 most recent papers
Fetal and Pediatric Pathology

Hypoplasia of the Corpus Callosum: A Single Center Experience and a Concise Literature Review

Fetal and Pediatric PathologyFebruary 20, 2020
Valentina D'AmbrosioAntonella Giancotti
Human Reproduction Update

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

Human Reproduction UpdateFebruary 19, 2020
Miriam ElbrachtThomas Eggermann
Perspectives in Biology and Medicine

Who's Afraid of the Big Bad (Germline Editing) Wolf?

Perspectives in Biology and MedicineFebruary 18, 2020
R Alta Charo
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

22q11.2 deletion syndrome and congenital heart disease

American Journal of Medical Genetics. Part C, Seminars in Medical GeneticsFebruary 13, 2020
Elizabeth Goldmuntz
Journal of Pediatric Endocrinology & Metabolism : JPEM

Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families

Journal of Pediatric Endocrinology & Metabolism : JPEMFebruary 13, 2020
Aman UllahMuhammad Naeem
Molecular Cytogenetics

Non-invasive prenatal test to screen common trisomies in twin pregnancies

Molecular CytogeneticsFebruary 12, 2020
Mahtab MotevasselianSoudeh Ghafouri-Fard
American Journal of Medical Genetics. Part a

Cantu syndrome: A longitudinal review of vascular findings in three individuals

American Journal of Medical Genetics. Part aFebruary 18, 2020
Ashley ParrottKathryn Nicole Weaver
European Journal of Medical Genetics

Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene

European Journal of Medical GeneticsFebruary 15, 2020
Alina TvinaAnna Palatnik
Journal of Gynecology Obstetrics and Human Reproduction

Use of multimedia tools in case reports to assess prenatal diagnostic accuracy: example of video sequence with a testicular teratoma.s

Journal of Gynecology Obstetrics and Human ReproductionFebruary 12, 2020
M A LequoyG Grange
Indian Journal of Pediatrics

Genetic Testing in Pediatric Kidney Disease

Indian Journal of PediatricsFebruary 15, 2020
Veronica AroraIshwar Chander Verma
Fetal and Pediatric Pathology

Prenatal Sonographic Detection of Monochorionic Twins with Bipartite Placenta

Fetal and Pediatric PathologyFebruary 14, 2020
Mehmet Serdar KutukSule Ozturk
Indian Pediatrics

Management of Infants with Congenital Adrenal Hyperplasia

Indian PediatricsFebruary 16, 2020
Aashima DabasSangeeta Yadav
Neurology. Genetics

Delineating MT-ATP6 -associated disease: From isolated neuropathy to early onset neurodegeneration

Neurology. GeneticsFebruary 12, 2020
Claudia StendelATP6 Study Group

Conjoined twins - A case report of prenatal diagnosis of cephalothoracoomphalopagus

RadiographyFebruary 14, 2020
S Vegar-ZubovićM Jusufbegović
European Journal of Medical Genetics

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association

European Journal of Medical GeneticsFebruary 15, 2020
Berardo RinaldiKoenraad Devriendt

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