Clinical AreaPerinatal medicine
Associated diseases
- "Prenatal test panel, Sweden"
- (Warburg-)Micro syndrome, differential diagnosis
- 3-Methylglutaconaziduria type 7, differential diagnosis
- 46XX - indifferent genitals, differential diagnosis
- 46XX - testicular disorders of testes development, non-syndromic; differential diagnosis
- 46XY - disorders of testes development, non-syndromic; differential diagnosis
- 46XY - gonadal dysgenesis, differential diagnosis
- Achondrogenesis type IB
- Achondrogenesis type II
- Achondroplasia
- Acrocallosal syndrome, differential diagnosis
- Adams-Oliver syndrome, differential diagnosis
- Adrenogenital syndrome, differential diagnosis
- Aicardi-Goutières syndrome, differential diagnosis
- Alagille syndrome, differential diagnosis
- Alopecia universalis
- Anencephaly + neural tube-defects; differential diagnosis
- Angelman syndrome, differential diagnosis
- Aniridia, differential diagnosis
- Anophthalmia, microphthalmia: differential diagnosis
- Anorectal malformations, [non-]syndromic; differential diagnosis
- Anorectal malformations, differential diagnosis
- Apert syndrome
- Apnoea, recurrent episodic; differential diagnosis
- Arachnodactyly, congenital contractural; differential diagnosis
- Aromatase deficiency
- Arterial calcification, infantile [generalized]; differential diagnosis
- Arthrogrypose, Differentialdiagnose
- Arthrogryposis, distal; differential diagnosis
- Arthrogryposis, neuromuscular; differential diagnosis
- Arthrogryposis, renal dysfunction + cholestasis
- Arthrogryposis, syndromal; differential diagnosis
- Atelosteogenesis I-III, differential diagnosis
- Au-Kline syndrome; differential diagnosis
- Baraitser-Winter syndrome, differential diagnosis
- Bardet-Biedl syndrome, differential diagnosis I
- Bardet-Biedl syndrome, differential diagnosis II [expanded supplementary panel]
- Beckwith-Wiedemann syndrome, congenital overgrowth; differential diagnosis
- Beckwith-Wiedemann syndrome, differential diagnosis
- Berardinelli-Seip congenital lipodystrophy, differential diagnosis
- Biotinidase deficiency, differential diagnosis
- Blepharophimosis-Ptosis-Epicanthus inversus syndrome, differential diagnosis
- Bohring-Opitz syndrome, differential diagnosis
- Brachydactyly, differential diagnosis
- Brain malformations, congenital; differential diagnosis
- Campomelic dysplasia, differential diagnosis
- Camurati-Engelmann disease, differential diagnosis
- Carnitine-Palmitoyl-Transferase IA Deficiency, differential diagnosis
- Cartilage-hair hypoplasia / anauxetic dysplasia spectrum, differential diagnosis
- Cataract with other eye anomalies, differential diagnosis
- Cataract, congenital; differential diagnosis
- Cerebellar hypoplasia, expanded differential diagnosis
- Ceroid-Lipofuscinosis, neuronal; differential diagnosis
- CHARGE syndrome, differential diagnosis
- Choanal atresia, differential diagnosis
- Cholestasis, congenital + adult; differential diagnosis
- Chondrodysplasia punctata, differential diagnosis
- Chromosomen-Aberration, pränatal
- Clefting, differential diagnosis; differential diagnosis
- Clefting, non-syndromal; differential diagnosis
- Club foot, differential diagnosis
- Cockayne syndrome
- Coffin-Siris syndrome, differential diagnosis
- Congenital disorders of glycosylation, CDG; differential diagnosis
- Contracture syndrome, lethal congenital; differential diagnosis
- Cornelia-de Lange syndrome, differential diagnosis
- Cortex malformations, differential diagnosis
- Costello syndrome, differential diagnosis
- Cowden syndrome, differential diagnosis
- Crouzon syndrome
- Cryptorchidism, differential diagnosis
- Currarino triad
- Cystic fibrosis - full sequence
- Cystic fibrosis, most frequent mutations
- Cystische Fibrose, Differentialdiagnose
- Dermopathie, restriktive; Differentialdiagnose
- Diabetes mellitus, neonatal with congenital hypothyreosis
- Dwarfism, infants; differential diagnosis
- Dyskeratosis congenita, differential diagnosis
- Ellis-van-Creveld syndrome, differential diagnosis
- Emery-Dreifuss muscular dystrophy, differential diagnosis
- Enlarged Parietal Foramina, differential diagnosis
- Epilepsies, metabolic; differentialdiagnosis
- Esophagus atresia/tracheo-esophageal fistulas, differential diagnosis
- Fallot tetralogy, differential diagnosis
- Familial congenital mirror movements; differential diagnosis
- Farber lipogranulomatosis
- Fatty acid oxidation disorders, differential diagnosis
- Feingold syndrome 1
- Floating-Harbor syndrome, differential dignosis
- Floppy infant, differential diagnosis
- Fraser syndrome, differential diagnosis
- Frontonasal dysplasia + Opitz GBBB syndrome, differential diagnosis
- Gastroenterologic neuromuscular disorders, differential diagnosis
- Genitopatellar syndrome/SBBYS syndrome, differential diagnosis
- Glucosuria, renal
- Glutaraciduria type I; differential diagnosis
- Greig cephalopolysyndactyly, differential diagnosis
- Growth redardation, early infantile; differential diagnosis
- Hand-Fuß-Genital-Syndrom; Differentialdiagnose
- Hartsfield syndrome, differential diagnosis
- Heterotaxy - Situs inversus, differential diagnosis
- Holoprosencephalc, microform; differential diagnosis
- Holoprosencephaly, differential diagnosis
- Holt-Oram syndrome, differential diagnosis
- Homocystinuria, classic; differential diagnosis
- HT amedes infant gene care
- Huppke-Brendel syndrome; differential diagnosis
- Hydrocephalus, X linked; differential diagnosis
- Hydrolethalus syndrome, differential diagnosis
- Hypercalcaemia, infantile; differential diagnosis
- Hyperglycinemia, non-ketotic; differential diagnosis
- Hypertrichosis, konnatal; Differentialdiagnose
- Hypochondroplasia
- Hypoglycaemia, familial hyperinsulinism; differential diagnosis
- Hypoplastic left heart syndrome, differential diagnosis
- Hypothyroidism, congenital; differential diagnosis
- Hypotonia-cystinuria syndrome, differential diagnosis
- Ichthyosis + related dyskeratinoses, differential diagnosis
- Ichthyosis, congenital, recessive; differential diagnosis
- IMAGe syndrome, differential diagnosis
- Intellectual deficit + macrocephaly, differential diagnosis
- Intellectual deficit + megalencephaly, differential diagnosis
- Intellectual deficit + microcephaly, differential diagnosis
- IPEX syndrome, differential diagnosis
- Iron-refractory iron deficiency anemia, IRIDA; differential diagnosis
- Isolated Sulfite Oxidase Deficiency; differential diagnosis
- Jackson-Weiss syndrome
- Jeune syndrome, differential diagnosis
- Ketogenesis disorders, differential diagnosis
- Kleinwuchs, idiopatisch; SHOX-Gen
- L1-Syndrom, Differentialdiagnose
- Larsen syndrome, differential diagnosis
- Lebersche kongenitale Amaurose/Abiotrophie, Differentialdiagnose
- Leigh syndrome, differential diagnosis
- Léri-Weill syndrome
- Lesch-Nyhan syndrome
- Lissencephaly, differential diagnosis
- Lymph edema, congenital hereditary; differential diagnosis
- Macrosomia, congenital; differential diagnosis
- Mainzer-Saldino syndrome
- Mandibulofacial dysostosis-microcephaly syndrome, differential diagnosis
- Mannosidase deficiency
- Mannosidase deficiency; differential diagnosis
- Maple syrup urine disease, differential diagnosis
- Martsolf syndrome, differential diagnosis
- Mayer-Rokitansky-Küster-Hauser syndrome, differential diagnosis
- Meacham syndrome
- Meckel[-Gruber] syndrome, differential diagnosis
- Megacystis, LUTO; differential diagnosis
- Megacystis, MMIHS; differential diagnostics
- Meier-Gorlin syndrome, differential diagnosis
- Menke-Hennekam syndrome 2; Rubinstein-Taybi syndrome 2
- Menke-Hennekam-Syndrom 1; Rubinstein-Taybi-Syndrom 1
- Microcephaly (patients with Seckel symptoms)
- Microcephaly [patients without Seckel symptoms], differential diagnosis
- Microcephaly + adynamia, differential diagnosis
- Microcephaly + cerebellar hypoplasia, differential diagnosis
- Microcephaly + double cortex/subcortical band heterotypia, differential diagnosis
- Microcephaly + dysgyria, differential diagnosis
- Microcephaly + holoprosencephaly spectrum [including septooptic dysplasia]; differential diagnosis
- Microcephaly + hydranencephaly, differential diagnosis
- Microcephaly + lissencephaly + cerebellar hypoplasia, differential diagnosis
- Microcephaly + periventricular nodulary heterotopias, differential diagnosis
- Microcephaly + polymicrogyria, differential diagnosis
- Microcephaly + pontocerebellar hypoplasia, differential diagnosis
- Microcephaly + pseudo TORCH, differential diagnosis
- Microcephaly-Capillary Malformation Syndrome, differential diagnosis
- Microcephaly, differential diagnosis
- Microcephaly, isolated, primary/secondary; differential diagnosis
- Microcephaly, predominantly secondary, syndromal; differential diagnosis
- Microcephaly, prenatal + postnatal; differential diagnosis
- Microcephaly, primary/secondary + growth retardation; differential diagnosis
- Microcephaly, short stature, polymicrogyria with / without seizures
- Microphthalmia with Linear Skin Defects Syndrome, differential diagnosis
- Mikrozephalie mit Lissenzephalie [dicker Kortex], Differentialdiagnose
- Mikrozephalie mit Lissenzephalie, dünner Kortex
- Möbius syndrome, differential diagnosis
- Morbus Caffey, differential diagnosis
- Morbus Gaucher, DD congenital ichthyosis, AR
- Morbus Gaucher, DD hydrops fetalis
- Morbus Gaucher, differential diagnosis
- MPPH-Syndrom, Differentialdiagnose
- Mucopolysaccharidoses, differential diagnosis II
- Multiple Acyl-CoA Dehydrogenase Deficiency, neonatal; differential diagnosis
- Multiple pterygium syndrome, lethal; differential diagnosis
- Muscle-eye-brain disease, differential diagnosis
- Muscular dystrophy Duchenne/Becker
- Muscular dystrophy, congenital; expanded differential diagnosis
- Mutation confirmation diagnostics for metabolic disorders after newborn screening
- Myopathie, kongenital; erweiterte Differentialdiagnose
- Myopathy, congenital; differential diagnosis
- Myopathy, tubular aggregated; differential diagnosis
- Myotonia congenita
- Myotonia congenita, differential diagnosis
- Nail-patella syndrome
- Neutropenia, congenital; differential diagnosis
- Nicolaides-Baraitser syndrome + Coffin-Siris syndrome; differential diagnosis
- Noonan syndrome, differential diagnosis
- Omphalocele, laparoschisis; differential diagnosis
- Opitz G/BBB syndroms, differential diagnosis
- Oro-facio-digital syndrome, differential diagnosis
- Osteochondritis dissecans, differential diagnosis
- Osteochondromas, multiple; differential diagnosis
- Osteogenesis imperfecta, differential diagnosis
- Osteopathia striata - cranial sclerosis, differential diagnosis
- Osteopetrosis, differential diagnosis
- Paramyotonia congenita
- Pediatric diseases, genetic; differential diagnosis
- Pena-Shokeir syndrome I, differential diagnosis
- Perlman syndrome
- Peroxisome biogenesis disorders, large panel; differential diagnosis
- Phenylketonuria, differential diagnosis
- Pierre-Robin sequence, differential diagnosis
- Pitt-Hopkins syndrome, differential diagnosis
- Pituitary hormone deficiency, combined; differential diagnosis
- Podocytopathias, non-syndromal; differential diagnosis
- Podocytopathias, syndromal; differential diagnosis
- Prader-Willi syndrome / Angelman syndrome
- Pränataler Hydrozephalus, Differentialdiagnose
- Pre-/postnatal pontocerebellar hypoplasia, differential diagnosis
- Prenatal akinesia / hypokinesia, differential diagnosis
- Prenatal anophthalmia / microphthalmia, differential diagnosis
- Prenatal Dandy-Walker malformation, differential diagnosis
- Prenatal DSD, differential diagnosis
- Prenatal growth retardation, differential diagnosis
- Prenatal holoprosencephaly, differential diagnosis
- Prenatal Joubert syndrome spectrum, differential diagnosis
- Prenatal lissencephaly, differential diagnosis
- Prenatal Noonan syndrome spectrum, differential diagnosis
- Prenatal VATER/VACTERL association, differential diagnosis
- Prenatally abnormal corpus callosum, differential diagnosis
- Prenatally abnormal heart, differential diagnosis
- Prenatally abnormal kidneys / urinary tract, differential diagnosis
- Propionic acidaemia
- Psoriasis, generalised pustular; differential diagnosis
- Pyruvatdehydrogenase deficiency, differential diagnosis
- Pyruvate Carboxylase Deficiency, differential diagnosis
- Roberts-Syndrom, Differentialdiagnose
- Robinow syndrome, AD/XLR; differential diagnosis
- Schizencephaly
- Short bowel syndrome, congenital
- Short stature, idiopathic, familial; SHOX gene
- Short-rib thoracic dysplasia. differential diagnosis
- Silver-Russell syndrome, differential diagnosis
- Skeletal dysplasia, differential diagnosis
- Skeletal dysplasia, recessive; differential diagnosis
- Small stature, differential diagnosis
- Sotos syndrome, differential diagnosis
- Spinal muscular atrophy, type 0, I, II, III, IV; differential diagnosis
- Spinal muscular atrophy; SMN1/SMN2 genes
- Spondylocarpotarsal synostosis, differential diagnosis
- Thalassaemia alpha
- Thalassaemia beta
- Thalassemia alpha + thalassemia beta
- Thanatophoric dysplasia I/II
- Thanatophoric dysplasia, differential diagnosis
- Thoracic dystrophies, differential diagnosis
- Thrombozytopenia-Absent radius syndrome, differential diagnosis
- Tibial muscular dystrophy, differential diagnosis
- Tricho-hepato-enteric syndrome, differential diagnosis
- Vici syndrome, differential diagnosis
- Williams-Beuren syndrome, differential diagnosis
- WT1 disorder; DD congenital diaphragmatic hernia
- WT1 disorder; DD disorders of testis development + DSD
Notes on the clinical area
Here you will find the disease-related gene panels available for the clinical area specified above.
If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).
Perinatal medicine
In addition to prenatal ultrasound, genetic examinations have become increasingly important in the care for pregnant women. Nowadays, a very large proportion of prenatal issues are successfully treated using non-invasive methods (see recommendations of DEGUM and the FMF-Germany).
First trimester screening
First-trimester screening consists of a combination of ultrasonographic procedures (measurement of nuchal translucency and other fetal parameters) and biochemical tests (free ß-hCG and PAPP-A). The ratio of these parameters to each other can be used to calculate a risk measure for the most common trisomies and heart defects.
NIPT
Non-invasive prenatal tests (NIPT) offer a very high degree of certainty in trisomy diagnostics for chromosomes 21, 13 and 18 as well as for the sex chromosome status. DNA fragments from placenta cells are analysed and assigned to the respective original fetal chromosomes. In this way it is possible to obtain a reliable documentation of possible chromosomal disorders of the embryo within 24 hours. The accuracy of NIPT can be limited in rare cases by genetic differences between embryoblast and trophoblast as well as by chromosomal mosaics, vanishing twin etc. Therefore, a conspicuous NIPT finding must always be confirmed by invasive diagnostics.
Invasive procedures
The invasive prenatal diagnostic procedures for clarifying genetic questions still represent a gold standard. Amniocentesis and chorionic villus sampling are the methods of choice here. Cytogenetic and molecular genetic questions can be answered diagnostically from the cells obtained (after propagation by cultivation). Depending on the ultrasound findings, the latest DNA analysis techniques such as gene panels are also used. Here, deviations from the reference genome (wild type) are to be detected in order to differentiate between neutral variants and pathogenic mutations, which are important for the physiological development and undisturbed function of all normal cells. The inheritance patterns of prenatally diagnosable diseases represent the basis of genetic counselling for expectant parents. In the last 30 years, thousands of genes have been characterised which cause such diseases or contribute to their development. For example, mutations in independent genes on different chromosomes can cause clinically indistinguishable symptom patterns ("locus heterogeneity"). On the other hand, different mutations in one and the same gene lead to clinically apparently separated disease entities ("allelic heterogeneity").
Formal genetics and etiology
Formal genetically and etiologically, the following groups of prenatal diseases can be distinguished:
- monogenic diseases (autosomal or X-chromosomal inheritance)
- digenic hereditary diseases, which are only manifested when mutations are simultaneously present in heterozygous state in two different genes. Physiologically the two normal gene products together form functional heterodimers. Digenic inheritance affects ~3% of hereditary diseases in addition to the classic autosomal and X-linked disorders.
- mitochondrial diseases (maternal or autosomal inheritance)
- multifactorial diseases (interaction of several to many genes plus environmental factors)
Gene panels
The following gene panels are offered; according to the candidate genes to be provided, they vary in scope and are sometimes very large:
- Microcephaly, prenatal and/or postnatal (without additional information)
- Prenatally abnormal limbs
- Prenatally conspicuous nuchal translucency
- Prenatally abnormal kidney/urinary system
- Prenatally conspicuous corpus callosum
- Prenatally abnormal fetus - rare syndrome?
- Prenatally conspicuous heart
- Prenatally conspicuous skeleton
- Prenatal akinesia/hypokinesia
- Prenatal anophthalmia/microphthalmia
- Prenatal DSD (prenatal disorders of sex determination/differentiation)
- Prenatal holoprosencephaly
- Prenatal lissencephaly
- Prenatal pontocerebellar hypoplasia
- Prenatal VATER/VACTERL Association
- Prenatal growth retardation
- Prenatal hydrocephalus
- Prenatal Dandy-Walker syndrome
- Prenatal Joubert syndrome spectrum
- Prenatal Noonan syndrome spectrum