Table 2 Characteristics of patients with a genetic diagnosis

From: Putting genome-wide sequencing in neonates into perspective

Patient ID	Age consultation (days)	Age death (days)	Gene	Inheritance	Disease name	OMIM (disease)	OMIM (gene[s])	Diagnosed using:	Time to diagnosis (days)	Consequences of diagnosis^a	Future screening	Diagnosis before discharge
1	3	6	ATAD3A	Recessive	ATAD3A-related pontocerebellar hypoplasia		612316; 612317	ES/reanalysis	991	None (died)^a		No
2	1		PTPN11	Dominant	Noonan syndrome	163950	*176876	Targeted diagnostics	55	Additional screening (negative)	X	No
3	2		NPC1	Recessive	Niemann–Pick type C	257220	*607623	Targeted diagnostics	68			No
3	2		OTOA	Recessive	Autosomal recessive deafness type 22	607039	*607038	ES-based hearing loss panel	167			No
4	2		T21	Chromosomal	Down syndrome	190685	190685	Clinical diagnosis	0	Initiation of new subspecialist care	X	Yes
5	1		T21	Chromosomal	Down syndrome	190685	190685	Clinical diagnosis	0	Initiation of new subspecialist care	X	Yes
6	2		PTPN11	Dominant	Noonan syndrome	163950	*176876	Clinical diagnosis	0		X	Yes
7	3		CDK13	Dominant	CDK13 syndrome	617360	*603309	ES/reanalysis	938			No
8	2		Chromosomal	Dominant	22q11 deletion syndrome	187500	611867	SNP array	PND	Additional screening (negative); irradiated blood for surgery		Yes
9	4		SLC6A9	Recessive	Glycine encephalopathy	617301	*601019	ES/reanalysis	512			No
10	0		COL2A1	Dominant	Spondyloepiphyseal dysplasia congenita	183900	*120140	Targeted diagnostics	311	Additional screening (negative)		No
11	3		T21	Chromosomal	Down syndrome	190685	190685	QF-PCR	1	Initiation of new subspecialist care	X	Yes
12	0		T21	Chromosomal	Down syndrome	190685	190685	Clinical diagnosis	0	Initiation of new subspecialist care	X	Yes
13	0		CHD7	Dominant	CHARGE syndrome	214800	*608892	ES (targeted readout)	130	Additional screening (negative)	X	No
14	0		T21	Chromosomal	Down syndrome	190685	190685	Clinical diagnosis	0	Initiation of new subspecialist care	X	Yes
15	3		Chromosomal	Dominant	1q24.3-q31.1del			SNP array	13	Additional screening (negative)		Yes
16	1		Chromosomal	Dominant	1q21.1	612474		SNP array	PND			Yes
17	23		NSD1	Dominant	Sotos syndrome	117550	*606681	Targeted diagnostics	162	Additional screening (negative)	X	No
18	4		PWS	Dominant (imprinted)	Prader–Willi syndrome	176270		SNP array	15	Early treatment with GH	X	Yes
19	1	655	CHD7	Dominant	CHARGE syndrome	214800	*608892	Clinical diagnosis	0	Identification of additional anomalies	X	Yes
20	2	8	Chromosomal	Chromosomal	17q12q25.3dup 12p13.33p13.32dup (high mosaic)			SNP array	PND	Initiation of palliative care		Yes
21	1		CHRNG	Recessive	Escobar syndrome	265000	*100730	ES (targeted readout)	130	None^a		No
22	27		KMT2A	Dominant	Wiedemann–Steiner syndrome	605130	*159555	ES	34	Additional screening (negative)	X	No
23	0		PIK3CA	Dominant (mosaic)	PIK3CA-related disorders	612918	*171834	Clinical diagnosis	0	Additional screening (negative); tumor screening	X	Yes
24	3	6	GLDC	Recessive	Glycine biosynthesis deficiency	605899	*238300	Clinical diagnosis	0	Initiation of palliative care		Yes
25	1		Chromosomal	Chromosomal	46,XX,der(21)t(11;21)(p15.4;q22.2) Beckwith–Wiedemann syndrome	130650		SNP array	10	Tumor screening		Yes
26	1		CHD7	Dominant	CHARGE syndrome	214800	*608892	Clinical diagnosis	0	Identification of additional anomalies	X	Yes
27	1		T21	Chromosomal	Down syndrome	190685	190685	Clinical diagnosis	0	Initiation of new subspecialist care	X	Yes
28	0		NIPBL	Dominant	Cornelia de Lange syndrome	122470	*608667	Clinical diagnosis	0	Additional screening (negative)	X	Yes
29	11		Chromosomal	Dominant	18p11.22del	146390		SNP array	16	Additional screening (negative)		No
30	39		ADNP	Dominant	Helsmoortel–van der Aa syndrome	615873	*611386	ES	516	Additional screening (negative)		No
31	0	22	KMT2D	Dominant	Kabuki syndrome	147920	*602113	Clinical diagnosis	11	None (died)^a	X (died)	Yes
32	2		Chromosomal	Chromosomal	47,XY,+der(10)t(5;10)(p15.3;q11.2)			SNP array	PND	Additional screening (negative)		Yes

ES exome sequencing, GH growth hormone, MCA multiple congenital anomalies, PND prenatal diagnostics, QF-PCR quantitative fluorescence polymerase chain reaction, SNP single-nucleotide polymorphism.^aParents of all patients received reproductive counseling and prognostic information was available (prognostic information was not given for patients 1 and 31 because they had died at the time of diagnoses, nor for patients 21 and 32 for whom insufficient prognostic information was available).

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Table 2 Characteristics of patients with a genetic diagnosis

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