280:
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health
37:
The following conditions and disorders were recommended as a "core panel" by the 2005 report of the
American College of Medical Genetics (ACMG). The incidences reported below are from the full report, though the rates may vary in different populations.
519:
In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered.
473:
194:
206:
456:
451:
467:
200:
461:
479:
392:
300:
765:
413:
149:
485:
430:
387:
187:
137:
24:
around the world, along with information on testing methodologies, disease incidence and rationale for being included in screening programs.
821:
155:
524:
435:
440:
212:
758:
508:
179:
726:
503:
249:
548:
418:
382:
542:
167:
397:
841:
751:
327:
402:
237:
108:
90:
498:
131:
630:"Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes—Implications for the System"
554:
336:
218:
836:
826:
371:
255:
243:
161:
816:
355:
831:
790:
143:
60:
657:
350:
294:
173:
50:
774:
675:
649:
445:
54:
19:
695:
687:
641:
377:
345:
231:
102:
700:
691:
629:
317:
114:
810:
536:
96:
84:
661:
785:
530:
407:
363:
123:
322:
67:
309:
285:
76:
42:
676:"Newborn Screening: Toward a Uniform Screening Panel and System: Main Report"
333:
686:(5, Supplement). American College of Medical Genetics: 12S–252S. May 2008.
653:
645:
268:
743:
431:
Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
747:
410:(Hyperammonemia, hyperornithinemia, homocitrullinuria syndrome)
796:
List of disorders included in newborn screening programs
164:, cblA and cblB forms (MMA, Cbl A,B) < 1 in 100,000
474:
Short-chain hydroxy Acyl-CoA dehydrogenase deficiency
263:
Newborn screening by other methods than blood testing
28:
American
College of Medical Genetics recommendations
515:
Disorders added after the initial panel was defined
195:
Long-chain hydroxyacyl-CoA dehydrogenase deficiency
207:Very-long-chain acyl-CoA dehydrogenase deficiency
457:Carnitine palmityl transferase deficiency type 2
452:Carnitine palmityl transferase deficiency type 1
721:
719:
717:
715:
713:
711:
533:(Screened using pulse oximetry) - added in 2010
729:. Health Resources and Services Administration
628:Newborn Screening Authoring Committee (2008).
468:Carnitine/acylcarnitine Translocase Deficiency
201:Medium-chain acyl-CoA dehydrogenase deficiency
759:
462:Short-chain acyl-CoA dehydrogenase deficiency
436:Medium-chain ketoacyl-CoA thiolase deficiency
8:
480:Long-chain acyl-CoA dehydrogenase deficiency
393:2-Methylbutyryl-CoA dehydrogenase deficiency
301:Glucose-6-phosphate dehydrogenase deficiency
623:
621:
619:
617:
615:
613:
611:
609:
607:
605:
603:
601:
599:
597:
595:
593:
591:
414:Beta-methyl crotonyl carboxylase deficiency
398:3-Methylglutaconyl-CoA hydratase deficiency
150:3-Methylcrotonyl-CoA carboxylase deficiency
766:
752:
744:
589:
587:
585:
583:
581:
579:
577:
575:
573:
571:
486:Multiple acyl-CoA dehydrogenase deficiency
342:Defects of biopterin cofactor regeneration
699:
567:
388:Isobutyryl-CoA dehydrogenase deficiency
425:Inborn errors of fatty acid metabolism
188:Inborn errors of fatty acid metabolism
138:Hydroxymethylglutaryl lyase deficiency
7:
419:Adenosylcobalamin synthesis defects
383:2-Methyl 3-hydroxy butyric aciduria
180:Multiple-CoA carboxylase deficiency
156:Methylmalonyl-CoA mutase deficiency
692:10.1097/01.gim.0000223467.60151.02
493:Miscellaneous multisystem diseases
226:Miscellaneous multisystem diseases
14:
727:"Previously Nominated Conditions"
531:Critical congenital heart defects
525:Severe combined immune deficiency
441:Dienoyl-CoA reductase deficiency
213:Trifunctional protein deficiency
509:Maternal vitamin B12 deficiency
53:(Hb SS) > 1 in 5,000; among
504:Galactose epimerase deficiency
250:Congenital adrenal hyperplasia
18:list of disorders included in
1:
549:X-linked adrenoleukodystrophy
543:Mucopolysaccharidosis type I
328:Benign hyperphenylalaninemia
168:Beta-ketothiolase deficiency
822:Inborn errors of metabolism
858:
87:(TYR I) < 1 in 100,000
70:(Hb S/Th) > 1 in 50,000
781:
403:Glutaric acidemia type II
238:Congenital hypothyroidism
111:(MSUD) < 1 in 100,000
109:Maple syrup urine disease
91:Argininosuccinic aciduria
63:(Hb S/C) > 1 in 25,000
499:Galactokinase deficiency
258:(GALT) > 1 in 50,000
209:(VLCAD) > 1 in 75,000
197:(LCHAD) > 1 in 75,000
132:Glutaric acidemia type I
555:Spinal muscular atrophy
246:(BIOT) > 1 in 75,000
221:(CUD) < 1 in 100,000
219:Carnitine uptake defect
215:(TFP) < 1 in 100,000
203:(MCAD) > 1 in 25,000
182:(MCD) < 1 in 100,000
176:(PROP) > 1 in 75,000
170:(BKT) < 1 in 100,000
152:(3MCC) > 1 in 75,000
146:(IVA) < 1 in 100,000
140:(HMG) < 1 in 100,000
134:(GA I) > 1 in 75,000
117:(HCY) < 1 in 100,000
99:(CIT) < 1 in 100,000
93:(ASA) < 1 in 100,000
646:10.1542/peds.2007-3021
527:(SCID) - added in 2009
372:Methylmalonic acidemia
271:(HEAR) > 1 in 5,000
256:Classical galactosemia
252:(CAH) > 1 in 25,000
244:Biotinidase deficiency
162:Methylmalonic aciduria
158:(MUT) > 1 in 75,000
105:(PKU) > 1 in 25,000
356:Citrullinemia type II
680:Genetics in Medicine
281:care professionals.
240:(CH) > 1 in 5,000
234:(CF) > 1 in 5,000
791:Neonatal heel prick
269:Congenital deafness
144:Isovaleric acidemia
61:Sickle-cell disease
351:Hypermethioninemia
295:hemoglobinopathies
174:Propionic acidemia
51:Sickle cell anemia
842:Newborn screening
804:
803:
775:Newborn screening
446:Glutaric acidemia
362:Inborn errors of
308:Inborn errors of
276:Secondary targets
122:Inborn errors of
75:Inborn errors of
55:African-Americans
20:newborn screening
849:
768:
761:
754:
745:
738:
737:
735:
734:
723:
706:
705:
703:
672:
666:
665:
625:
378:Malonic acidemia
297:(including Hb E)
857:
856:
852:
851:
850:
848:
847:
846:
807:
806:
805:
800:
777:
772:
742:
741:
732:
730:
725:
724:
709:
674:
673:
669:
627:
626:
569:
564:
557:- added in 2018
551:- added in 2018
545:- added in 2015
539:- added in 2013
517:
346:Tyrosinemia III
278:
232:Cystic fibrosis
103:Phenylketonuria
35:
30:
12:
11:
5:
855:
853:
845:
844:
839:
834:
829:
824:
819:
809:
808:
802:
801:
799:
798:
793:
788:
782:
779:
778:
773:
771:
770:
763:
756:
748:
740:
739:
707:
667:
640:(1): 192–217.
566:
565:
563:
560:
559:
558:
552:
546:
540:
534:
528:
516:
513:
512:
511:
506:
501:
490:
489:
483:
477:
471:
465:
459:
454:
449:
443:
438:
433:
422:
421:
416:
411:
405:
400:
395:
390:
385:
380:
375:
359:
358:
353:
348:
343:
340:
330:
325:
320:
318:Tyrosinemia II
305:
304:
298:
277:
274:
273:
272:
260:
259:
253:
247:
241:
235:
223:
222:
216:
210:
204:
198:
184:
183:
177:
171:
165:
159:
153:
147:
141:
135:
119:
118:
115:Homocystinuria
112:
106:
100:
94:
88:
72:
71:
64:
58:
34:
31:
29:
26:
13:
10:
9:
6:
4:
3:
2:
854:
843:
840:
838:
837:Rare diseases
835:
833:
830:
828:
827:Medical lists
825:
823:
820:
818:
815:
814:
812:
797:
794:
792:
789:
787:
784:
783:
780:
776:
769:
764:
762:
757:
755:
750:
749:
746:
728:
722:
720:
718:
716:
714:
712:
708:
702:
697:
693:
689:
685:
681:
677:
671:
668:
663:
659:
655:
651:
647:
643:
639:
635:
631:
624:
622:
620:
618:
616:
614:
612:
610:
608:
606:
604:
602:
600:
598:
596:
594:
592:
590:
588:
586:
584:
582:
580:
578:
576:
574:
572:
568:
561:
556:
553:
550:
547:
544:
541:
538:
537:Pompe disease
535:
532:
529:
526:
523:
522:
521:
514:
510:
507:
505:
502:
500:
497:
496:
495:
494:
487:
484:
481:
478:
475:
472:
470:(Translocase)
469:
466:
463:
460:
458:
455:
453:
450:
447:
444:
442:
439:
437:
434:
432:
429:
428:
427:
426:
420:
417:
415:
412:
409:
406:
404:
401:
399:
396:
394:
391:
389:
386:
384:
381:
379:
376:
373:
370:
369:
368:
367:
365:
357:
354:
352:
349:
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344:
341:
338:
335:
331:
329:
326:
324:
321:
319:
316:
315:
314:
313:
311:
302:
299:
296:
292:
291:
290:
289:
287:
282:
275:
270:
267:
266:
265:
264:
257:
254:
251:
248:
245:
242:
239:
236:
233:
230:
229:
228:
227:
220:
217:
214:
211:
208:
205:
202:
199:
196:
193:
192:
191:
190:
189:
181:
178:
175:
172:
169:
166:
163:
160:
157:
154:
151:
148:
145:
142:
139:
136:
133:
130:
129:
128:
127:
125:
116:
113:
110:
107:
104:
101:
98:
97:Citrullinemia
95:
92:
89:
86:
85:Tyrosinemia I
83:
82:
81:
80:
78:
69:
65:
62:
59:
56:
52:
49:
48:
47:
46:
44:
39:
32:
27:
25:
23:
21:
817:Epidemiology
795:
786:Beutler test
731:. Retrieved
683:
679:
670:
637:
633:
518:
492:
491:
424:
423:
408:HHH syndrome
364:organic acid
361:
360:
339:biosynthesis
307:
306:
284:
283:
279:
262:
261:
225:
224:
186:
185:
124:organic acid
121:
120:
74:
73:
41:
40:
36:
17:
15:
832:Neonatology
332:Defects of
323:Argininemia
68:Thalassemia
811:Categories
733:2018-12-02
634:Pediatrics
562:References
366:metabolism
312:metabolism
310:amino acid
286:Blood cell
126:metabolism
79:metabolism
77:amino acid
66:Hb S/Beta-
43:Blood cell
33:Core panel
16:This is a
374:(Cbl C,D)
334:biopterin
288:disorders
45:disorders
662:44763313
654:18166575
337:cofactor
293:Variant
57:1 in 400
22:programs
701:3109899
476:(SCHAD)
448:type II
698:
660:
652:
488:(MADD)
482:(LCAD)
464:(SCAD)
303:(G6PD)
658:S2CID
650:PMID
696:PMC
688:doi
642:doi
638:121
813::
710:^
694:.
682:.
678:.
656:.
648:.
636:.
632:.
570:^
767:e
760:t
753:v
736:.
704:.
690::
684:8
664:.
644::
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.