Objectives: To determine if the Nuchal index (NIx) is increased in euploid fetuses with structural congenital heart defects (CHD).
Methods: Euploid fetuses with CHD between 18 and 24 weeks gestation were identified. The next fetus meeting the same criteria with a normal fetal echocardiogram were selected as a control. The NIx [(mean nuchal thickness /mean biparietal diameter) x 100] and cardiac axis (CA; degrees) were calculated for each fetus. Standard descriptive tests and two-tailed t test were used.
Results: The NIx in the abnormal (n = 20) and control (n = 20) groups were 9.10 (2.35) and 7.54 (p = 0.04) and CA was 55.8 degrees and 48.6 degrees (p = 0.02), respectively.
Conclusions: The NIx and CA were significantly different in fetuses with CHD. A prospective study to confirm these findings and determine clinical utility is warranted.
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http://dx.doi.org/10.1159/000089057 | DOI Listing |
Nan Fang Yi Ke Da Xue Xue Bao
November 2024
Department of Reproductive Medicine, Jinling Clinical Medical College, Nanjing University of Chinese Medicine, Nanjng 210002, China.
Am J Med Genet A
October 2024
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Zhonghua Nan Ke Xue
June 2024
Ganzhou People's Hospital, Ganzhou, Jiangxi 341000, China.
Objective: To investigate the application value of single-sperm sequencing in resolving the carrier status of preimplantation genetic testing (PGT) for chromosomal structural rearrangements in Robertsonian translocations.
Methods: Haplotypes were constructed by single-sperm isolation combined with single-sperm sequencing for a patient with 45, XY, der(13; 14)(q10; q10). Twenty single-sperm samples were isolated by mechanical braking and subjected to whole-genome amplification (WGA), and then the Asian Screening Array (ASA) gene chip was used to detect the 183 708 single nucleotide polymorphisms (SNP) of the WGA products.
J Assist Reprod Genet
October 2024
Medical Department, Orchid Reproductive and Andrology Services, Dubai, UAE.
Purpose: To showcase the successful use of ICSI with PGT-M to overcome Beckwith-Wiedemann syndrome (BWS)-related reproductive challenges, resulting in the birth of a healthy baby boy. By targeting the maternally inherited CDKN1C pathogenic gene variant, this report highlights the genetic interventions in BWS reproductive risk management.
Methods: This case report describes a 41-year-old woman seeking fertility assistance after a previous pregnancy revealed a fetal anomaly related to BWS.
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