Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.
Hagit DaumIsraela LererAyala FrumkinDaniel RosenakNili YanaiShay PoratSimcha YagelVardiella MeinerPublished in: Prenatal diagnosis (2018)
A tripartite approach integrating sonographic pathology with regions of excessive homozygosity data and INGD-based founder mutation repository yields a comprehensive streamlined approach to provide accurate genetic diagnosis and counselling within the time constraints of an ongoing pregnancy.
Keyphrases
- copy number
- magnetic resonance imaging
- electronic health record
- preterm birth
- genome wide
- high resolution
- weight gain
- pregnancy outcomes
- case control
- hiv testing
- ultrasound guided
- dna methylation
- body mass index
- pregnant women
- optic nerve
- machine learning
- human immunodeficiency virus
- hepatitis c virus
- men who have sex with men
- physical activity