Table 3.
Individual case survey on anomalies in the long-term development of iNIHF
| Anomalies | Follow-up (years) | Prenatal resolution of NIHF | Non-temporary anomalies | Temporary anomalies and additional mild logopedic, psychosocial and motoric impairmenta | Birth at GA (completed weeks + days) | |
|---|---|---|---|---|---|---|
| 1 | Major anomaly | 14 | Yes | Autism spectrum disorder, ataxia | Psychosocial anomalies: aggressive social behavior disorder (U9) | 38 + 3 |
| 2 | Major anomaly | 13 | Yes | Severely disabled, global developmental delay, autism, facial stigmata Variants with unclear clinical relevance were found in aCGH analysisb | 38 + 5 | |
| 3 | Minor anomaly | 18 | Yes | Neurodermatitis, bronchial asthma | Logopedic anomalies: sigmatism, dyslalia, mild hearing impairment (U8) | 39 + 5 |
| 4 | Minor anomaly | 16 | Yes | Congenital hip dysplasia, joint pain, Raynaud's disease | 40 + 0 | |
| 5 | Minor anomaly | 12 | Yes | Neurodermatitis |
Cryptorchidism (U7) Logopedic anomalies: sigmatism (U9) Psychosocial anomalies: encopresis (U10) |
40 + 1 |
| 6 | Minor anomaly | 11 | Yes | Abnormal posture of a kidney |
Umbilical hernia (U7) Logopedic anomalies: dyslalia (U8) Psychosocial anomalies: social anxiety (U8), nocturnal enuresis (U9) |
38 + 6 |
| 7 | Minor anomaly | 11 | Yes | Selective IGA deficiency | 39 + 5 | |
| 8 | Minor anomaly | 11 | Yes |
Recurrent hand and feet edema Variants with unclear clinical relevance were found in aCGH analysisc |
Suspected syndrome (U1–7) due to combination of hypospadias, cryptorchidism, hemangioma, hypertelorism, examinations of metabolism inconspicuous, overall normal development and growth | 39 + 3 |
| 9 | Minor anomaly | 9 | Yes |
Sinus pilonidal (U2–3) Logopedic anomalies: sigmatism (U8) |
40 + 0 | |
| 10 | Minor anomaly | 9 | Yes | Congenital hip dysplasia |
Logopedic anomalies: dyslalia (U8) Motoric anomalies: abnormal fine motor skills (U9) |
39 + 2 |
| 11 | Minor anomaly | 8 | Yes |
Small palatal cyst (U2–6) Logopedic anomalies: dyslalia (U8) Psychosocial development anomalies (U9) |
38 + 6 | |
| 12 | Minor anomaly | 6 | Yes | Recurrent feet edema | 39 + 6 | |
| 13 | Minor anomaly | 6 | No: Mild pericardial effusion GA 28 + 6 weeks | Cryptorchidism (U7) | 34 + 1 | |
| 14 | Overall inconspicuous development | 18 | Yes | Psychosocial anomalies: dyslexia, emotional instability, obesity (U11) suspicious EEG findings without epileptic seizures (U11) | 39 + 2 | |
| 15 | Overall inconspicuous development | 16 | Yes | Psychosocial anomalies, reduced learning ability (U10–11) | 38 + 5 | |
| 16 | Overall inconspicuous development | 9 | Yes |
Logopedic anomalies: sigmatism (U8-9) Motoric anomalies: muscular hypotension (U8) |
37 + 6 | |
| 17 | Overall inconspicuous development | 9 | Yes | Logopedic anomalies: dyslalia (sibilant sounds), obstructive tubal dysfunction (U10) | 41 + 1 | |
| 18 | Overall inconspicuous development | 9 | Yes |
Logopedic anomalies: dyslalia (ch-sounds, U9) Motoric anomalies: asymmetric posture (U10-11) |
37 + 6 | |
| 19 | Overall inconspicuous development | 3 | Yes | Motoric anomalies: mild muscular hypotension, over extensibility of joints (U7a) | 40 + 5 | |
GA gestational age
aAge of the child categorized by period of standardized pediatric examination (U1-11) according to German pediatric guidelines (GBA)
U1-2: Perinatal. 0–14 days; U 3–6: Infant. 15 days–12 months; U 7–9: Toddler. 1–5 years; U 10–11: Primary school child. 6–9 years
bResults from whole genome oligonucleotide array comparative genomic hybridization (aCGH) analysis: Duplication on 4q31; heterozygous deletion on 6p12; and an increase of 350 kb in 19q13
cResults from whole genome aCGH analysis: duplication on 4p15