IllnessPrenatal growth retardation, differential diagnosis

NGS +

[Sanger]

Intrauterine growth is a most important sign of fetal well-being + a most reliable indicator of the pathologic conditions that affect the mother + fetus during pregnancy. Early identification of alterations in fetal growth allow for early intervention to prevent long-term complications for the fetus + newborn infant. Intrauterine growth restriction refers to a condition in which a fetus does not achieve its genetically determined potential size. This functional definition seeks to identify a population of fetuses at risk for modifiable but otherwise poor outcomes. This definition intentionally excludes fetuses that are small for gestational age but are not pathologically small. It is defined as growth at <10th percentile for weight of all fetuses at that gestational age. Not all fetuses that are SGA are pathologically growth restricted and, in fact, may be constitutionally small. Similarly, not all fetuses that have not met their genetic growth potential are <10th percentile for estimated fetal weight. Of all fetuses at/below 10th percentile for growth, only ~40% are at high risk for preventable perinatal death.

• Alias: Intra Uterine Growth Restriction, IUGR
• Alias: Intra Uterine Growth Retardation, IUGR
• Alias: Pränataler Minderwuchs
• Alias: Small for date baby
• Allelic: Increased responsiveness to growth hormone (GHR)
• Allelic: Trigonocephaly 1 (FGFR1)
• 3-M syndrome 1 (CUL7)
• 3-M syndrome 2 (OBSL1)
• 3-M syndrome 3 (CCDC8)
• Aarskog-Scott syndrome (FGD1)
• Acid-labile subunit, deficiency of (IGFALS)
• Alias: Fetal Growth Restriction, FGR
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• Axenfeld-Rieger syndrome, type 1 (PITX2)
• Bloom syndrome (BLM)
• CHARGE syndrome (CHD7)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAPO2K2)
• Cerebrooculofacioskeletal syndrome 1 (ERCC6)
• Cockayne syndrome, type A (ERCC8)
• Cockayne syndrome, type B (ERCC6)
• Coffin-Lowry syndrome (RPS6KA3)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Costello syndrome (HRAS)
• Culler-Jones syndrome (GLI2)
• De Sanctis-Cacchione syndrome (ERCC6)
• Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
• Fanconi anemia, complementation group A-L (FANCA ... FANCL)
• Floating-Harbor syndrome (SRCAP)
• Growth hormone deficiency with pituitary anomalies (HESX1)
• Growth hormone deficiency, isolated, type IV (GHRHR)
• Growth hormone deficiency, isolated, types IA, IB, II (GH1)
• Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
• Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
• Growth hormone insensitivity, partial (GHR)
• Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
• Hartsfield syndrome (FGFR1)
• Holoprosencephaly 9 (GLI2)
• Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
• Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
• Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
• IMAGE syndrome (CDKN1C)
• Insulin-like growth factor I, resistance to (IGF1R)
• Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
• Jackson-Weiss syndrome (FGFR1)
• KBG syndrome (ANKRD11)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Kenny-Caffey syndrome, type 1 (TBCE)
• Koolen-De Vries syndrome (KANSL1)
• Kowarski syndrome (GH1)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• LIG4 syndrome (LIG4)
• Langer mesomelic dysplasia (SHOX)
• Laron dwarfism (GHR)
• Laurence-Moon syndrome (PNPLA6)
• Leprechaunism (INSR)
• Leri-Weill dyschondrosteosis (SHOX)
• Lowry-Wood syndrome (RNU4ATAC)
• MIRAGE syndrome (SAMD9)
• Meier-Gorlin syndrome 1 (ORC1)
• Meier-Gorlin syndrome 2 (ORC4)
• Meier-Gorlin syndrome 3 (ORC6)
• Meier-Gorlin syndrome 4 (CDT1)
• Meier-Gorlin syndrome 5 (CDC6)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mental retardation, XL, syndromic 16 (FGD1)
• Mental retardation, XL, syndromic, 35 (RPL10)
• Mental retardation, XL, with isolated growth hormone deficiency (SOX3)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
• Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
• Microphthalmia, syndromic 3 (SOX2)
• Midface hypoplasia, hearing impairment, elliptocytosis + nephrocalcinosis (AMMECR1)
• Mulibrey nanism (TRIM37)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome-like disorder with(-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Oliver-McFarlane syndrome (PNPLA6)
• Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
• Osteoglophonic dysplasia (FGFR1)
• Pallister-Hall syndrome (GLI3)
• Panhypopituitarism, XL (SOX3)
• Pfeiffer syndrome (FGFR1)
• Pituitary hormone deficiency, combined or isolated, 7 (RNPC3)
• Pituitary hormone deficiency, combined, 1 (POU1F1)
• Pituitary hormone deficiency, combined, 2 (PROP1)
• Pituitary hormone deficiency, combined, 3 (LHX3)
• Pituitary hormone deficiency, combined, 4 (LHX4)
• Pituitary hormone deficiency, combined, 5 (HESX1)
• Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Robinow syndrome, AR (ROR2)
• Roifman syndrome (RNU4ATAC)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• SHORT syndrome (PIK3R1)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Seckel syndrome 2 (RBBP8)
• Seckel syndrome 4 (CENPJ)
• Short stature with microcephaly + distinctive facies (CRIPT)
• Short stature, Dauber-Argente type (PAPPA2)
• Short stature, idiopathic familial (SHOX)
• Short stature, microcephaly + endocrine dysfunction (XRCC4)
• Short stature, rhizomelic, with microcephaly, micrognathia, developmental delay (ARCN1)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Thyroid hormone resistance (THRB)
• Thyroid hormone resistance, AR (THRB)
• Thyroid hormone resistance, selective pituitary (THRB)
• Werner syndrome (WRN)