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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Common genetic disorders associated with fetal growth restriction (FGR)

Common genetic disorders associated with fetal growth restriction (FGR)
Disorder Inheritance and gene Common ultrasound findings
Monogenic
Noonan syndrome

Autosomal dominant: Most common genes: BRAF, KRAS, MAP2K1, MRAS, NRAS

De novo variant: less common

Autosomal recessive: LZTR1 variants
Elevated nuchal translucency, CHD 50 to 80% with pulmonary valve stenosis most common, characteristic facies
Smith Lemli Opitz Syndrome Autosomal recessive: Disorder of cholesterol synthesis: DHCR7 – 96% mutation, 4% deletion 2/3 syndactyly, microcephaly, hypospadias multiple major malformations
Cornelia de Lange Syndrome

Autosomal dominant: new mutation 99% of time; NIPB, SMC1A, HDAC8, SMC3, RAD21 and BRD4

X-linked: HDAC8, SMC1A

Mild to severe FGR, upper limb defects

Cardiac septal defects

Microcephaly

Characteristic facies
Fanconi anemia

Autosomal recessive: 25 genes known, FANCA 60 to 70% mutation or deletion

Autosomal dominant: RAD51

X-linked: FANCB
Skeletal abnormalities – often radius/thumb GU abnormalities, bone marrow failure, low platelets
Achondroplasia

Autosomal dominant: FGFR3 mutation

De novo: if normal parents
Rhizomelic short limbs >4 SD below mean, macrocephaly, frontal bossing trident hand
Uniparental disomy
Silver-Russell

De novo: Maternal UPD7

Imprinting defect paternal H/19/IGF2
Severe early FGR, relative macrocephaly
Aneuploidy
Triploidy (3n = 69)
Diandric

(2n from the father and 1n from the mother)

Sporadic

Symmetric FGR, 80% structural abnormalities

Cystic large placenta, oligohydramnios

Risk for GTN 1 to 2%
Digynic

(2n from the mother and 1n from the father)

Sporadic

Severe FGR, asymmetric

Small placenta, oligohydramnios
Trisomy Extra chromosome 13/18 most common  
Duplications/deletions Multiple described – 7 to 9% of fetuses with FGR Structural abnormalities
Confined placental mosaicism
(Observed for every chromosome except 19)
Chromosome 16 Most common

FGR in 43 to 58%: malformations: 20%

Prematurity: 32 to 37%, Preeclampsia: 16 to 24%
CHD: congenital heart disease; FGR: fetal growth restriction; GU: genitourinary; SD: standard deviation; GTN: gestational trophoblastic neoplasia.
Courtesy of Giancarlo Mari, MD, MBA and Jane Corteville, MD.
Graphic 139439 Version 1.0

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