Background: This study conducted genetic analysis on fetuses indicated to be at high risk by non-invasive prenatal testing (NIPT) to explore the etiology.
Methods: Karyotype analysis and single nucleotide polymorphism array (SNP-array) were performed to detect copy number variations in fetal amniotic fluid and parental peripheral blood.
Results: Fetal karyotype showed 46, X?, del (4) (q28q31.2). SNP-array revealed a novel 22.3 Mb deletion in the 4q28.1q31.21 segment. No abnormalities were found in the karyotype and SNP-array of the fetal parents. After induction of labor, the fetus was diagnosed with fetal growth restriction (FGR); being small for its gestational age by three weeks.
Conclusions: Using G-banding karyotype analysis and SNP-array, a prenatal diagnosis of a fetus with rare 4q28.1q31.21 microdeletion was made. The 4q28.1q31.21 microdeletion was identified as the cause of fetal FGR, leading to accurate genetic counseling for pregnant women.
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Background: This study conducted genetic analysis on fetuses indicated to be at high risk by non-invasive prenatal testing (NIPT) to explore the etiology.
Methods: Karyotype analysis and single nucleotide polymorphism array (SNP-array) were performed to detect copy number variations in fetal amniotic fluid and parental peripheral blood.
Results: Fetal karyotype showed 46, X?, del (4) (q28q31.
The Y chromosome: male reproduction and beyond.
Fertil Steril
March 2025
Dept. of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy; Department of Andrology, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Catalonia, Spain.
The crucial role of Y chromosome genes in male gonadal determination and reproductive fitness has been recognized for decades. Y chromosome microdeletions are the most common molecular genetic causes of azoospermia and severe spermatogenic impairment. Since the late 1990s, screening for these microdeletions has become a routine part of the diagnostic work-up of severe male factor infertility.
View Article and Find Full Text PDFNeurodevelopmental disorders result from interactions between genetic predisposition and environmental risk factors, with infancy being the most vulnerable period. We designed a longitudinal study to determine how short-term antibiotic exposure during early postnatal life impacts the gut microbiome, neurodevelopment, and behavior, and whether these alterations were exacerbated by the neurodevelopmental disorder-associated 16p11.2 microdeletion (16pDel) mutation.
View Article and Find Full Text PDFDifficulty in genetic counseling of prenatally detected de novo 17q12 microdeletion encompassing HNF1B and LHX1 in a fetus with no abnormality on fetal ultrasound.
Taiwan J Obstet Gynecol
March 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address:
Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family.
Taiwan J Obstet Gynecol
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Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Objective: A case of prenatal diagnosis of familial 15q13.2q13.3 microdeletion is presented.
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