Objective: To carry out prenatal diagnosis and genetic analysis for a fetus with disorders of sex development (DSDs).
Methods: A fetus with DSDs who was identified at the Shenzhen People's Hospital in September 2021 was selected as the study subject. Combined molecular genetic techniques including quantitative fluorescence PCR (QF-PCR), multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray analysis (CMA), quantitative real-time PCR (qPCR), as well as cytogenetic techniques such as karyotyping analysis and fluorescence in situ hybridization (FISH) were applied. Ultrasonography was used to observe the phenotype of sex development.
Results: Molecular genetic testing suggested that the fetus had mosaicism of Yq11.222qter deletion and X monosomy. Combined with the result of cytogenetic testing, its karyotype was determined as mos 45,X[34]/46,X,del(Y)(q11.222)[61]/47,X,del(Y)(q11.222),del(Y)(q11.222)[5]. Ultrasound examination suggested hypospadia, which was confirmed after elective abortion. Combined the results of genetic testing and phenotypic analysis, the fetus was ultimately diagnosed with DSDs.
Conclusion: This study has applied a variety of genetic techniques and ultrasonography to diagnose a fetus with DSDs with a complex karyotype.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20220809-00534 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pre-pregnancy fertility guidance for women of childbearing age with epilepsy: A scoping review.
Int J Nurs Stud Adv
June 2025
Department of Neurology, Affiliated Hospital of Zunyi Medical University, Guizhou, , 56300, China.
Background: Epilepsy is one of the most common neurological conditions affecting women of reproductive age. Epilepsy management during pregnancy is a clinical conundrum, requiring a balance between seizure control and risk minimization for women with epilepsy, as well as for their fetuses.
Objective: In this review, we aimed to systematically search, evaluate, and summarize relevant evidence on perinatal fertility guidance for women with epilepsy to provide a basis for medical staff to offer comprehensive fertility counseling.
Novel serum biomarkers for early diagnosis of gestational diabetes mellitus-a review.
Gynecol Endocrinol
December 2025
INVICTA Research and Development Center, Sopot, Poland.
Gestational diabetes mellitus (GDM) affects 9-25% of pregnancies. Undiagnosed or poorly managed GDM is associated with both short- and long-term complications in the fetus and mother. The pathogenesis of GDM is complex and has not yet been fully elucidated.
View Article and Find Full Text PDFThe benefits and harms of oral iron supplementation in non-anaemic pregnant women: a systematic review and meta-analysis.
Fam Pract
January 2025
Nuffield Department of Primary Care Health Sciences, Centre for Evidence Based Medicine, University of Oxford, Radcliffe Primary Care Building, Radcliffe Observatory Quarter, Woodstock Road, Oxford OX2 6GG, United Kingdom.
Background: Iron deficiency during pregnancy poses a significant risk to both maternal and foetal health. Current international guidelines provide discrepant advice on antenatal iron supplementation for non-anaemic women.
Objective: We aimed to quantify the benefits and harms of routine antenatal supplementation in non-anaemic women.
Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research.
J Community Genet
January 2025
SEWA Rural, Jhagadia, Gujarat, India.
Prenatal screening (PNS) for Sickle Cell Disease (SCD) offers a potential avenue for informed reproductive choices and the sickle elimination initiative of the Government of India. The objective of the study was to explore perceptions and ethical dilemmas surrounding prenatal screening for sickle cell disease and subsequent termination of pregnancy among pregnant women and key stakeholders from the tribal region of Gujarat. The study employed sequential mixed-methods research, embedding a participatory research approach.
View Article and Find Full Text PDFPrenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.
Medicine (Baltimore)
January 2025
The Reproductive Medicine Centre, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.
Rationale: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!