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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPrenatal growth retardation, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Prenatal growth retardation comprising 17 and altogether 94 curated genes according to the clinical signs

ID
PP0012
Number of genes
90 Accredited laboratory test
Examined sequence length
21,8 kb (Core-/Core-canditate-Genes)
252,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • Amniotic fluid (after amnocentesis)
  • Chorionic villus
  • EDTA-anticoagulated blood (3-5 ml)
  • Umbilical cord blood
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
DHCR71428AR
ERCC81191AR
GH1654AD, AR
GHR1917AR
GHRHR1272AR
HESX1558AD, AR
IGF1462AR
KRAS567AD
NBN2265AR
PROP1681AR
PTPN111782AD
RAF11947AD
RPS6KA32223n.k.
SHOX879AD
SOX2954AD
SOX31341XL
TBCE1584AR
AMMECR11008XLR
ANKRD117992AD
BLM4254AR
BRAF2301AD
BTK1980XLR
CBL2721AD
CCDC81617AR
CDC61683AR
CDKN1C951AD, Sus
CDT11641AR
CENPJ4017AR
CHD78994AD
CREBBP7329AD
CRIPT306AR
CUL75097AR
EP3007245AD
ERCC64482AR
FANCA4368AR
FANCB2580XLR
FANCC1677AR
FANCE1611AR
FANCF1125AR
FANCG1869AR
FANCI3987AR
FANCL1128AR
FGD12886XLR
FGF8735AD
FGFR12469AD
GLI24761AD
GLI34743AD
HDAC81134XLD
HRAS570AD
IGF1R4104AD, AR
IGFALS1818AR
INSR4149AR
KDM6A4206XLD
KMT2D16614AD
LHX31209AR
LHX41173AD
LIG42736AR
MAP2K11182AD
MAP2K21203AD
NIPBL8415AD
NRAS570AD
OBSL15691AR
ORC12586AD
ORC41311AR
ORC6759n.k.
OTX2870AD
PAPPA25451AD
PCNT10011AR
PIK3R12175AD
PITX2816AD
PNPLA63984AR
POU1F1876AD, AR
PROKR21155AD
RAD211896AD
RBBP82694AR
RIT1660AD
RNU4ATAC130AR
ROR22832AD, AR
RPL10651XLR
SAMD94770AD
SHOC21749AD
SMC1A3702XLD
SMC33654AD
SOS14002AD
SRCAP9693AD
STAT5B2364AR
TRIM372895AR
WRN4299AR
XRCC41005AD
ZFP571611AD, AR

Informations about the disease

Clinical Comment

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.

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XL
  • XLD
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.1

Bioinformatics and clinical interpretation

No text defined