NGPD includes the study of chromosomal disorders, genetic microdeletions and microduplications.
The following tables list the conditions that should be considered in a new generation prenatal diagnosis.
They are known pathologies for which the genetic characteristics are well understood. The patient must be supplied with specific information regarding these pathologies, as this constitutes part of the informed consent that the couple receives prior to the execution of this test.
Table A: Chromosomal
| LIST chromosomal |
| Trisomia 21 (Sindrome di Down) |
| Trisomia 18 (Sindrome di Edwrds) |
| Trisomia 13 (Sindrome di Patau) |
| Trisomia 8 |
| Trisomia 9 a mosaico |
| Triploidia |
| Sindrome da delezione 3p |
| Sindrome da duplicazione 3q |
| Sindrome da delezione 4p (Sindrome di Wolf-Hirschhorn) |
| Sindrome da duplicazione 4q |
| Sindrome da delezione 5p (Sindrome del cri du chat) |
| Sindrome da delezione 9p |
| Sindrome da duplicazione 10q |
| Sindrome da delezione 11q |
| Sindrome da delezione 13q |
| Sindrome da duplicazione 15q |
| Sindrome da delezione 18p |
| Sindrome da delezione 18q |
| Sindrome Cat-eye |
| Sindrome XYY (doppio Y) |
| Sindrome di Klinefelter |
| Sindrome XXX (triplo X) |
| Sindrome di Turner (monosomia cromosoma X) |
| Altre anomalie numeriche |
Table B: SYNDROMIC DISORDER BY MUTATIONS OF THE GENES:
NGPD – List disease genes and mutations rev. 05/14/2015
Table C: SYNDROMIC DISORDER DUE TO MICRODELETZIONS / MICRODUPLICATIONS OF THE LOCI REPORTED IN THE ADJACENT COLUMN
| SYNDROMIC DISORDER DUE TO MICRODELETZIONS / MICRODUPLICATIONS OF THE LOCI REPORTED IN THE ADJACENT COLUMN | TRANSMISSION | INCIDENCE | Genetic locus examined |
| Sindrome di Miller-Dieker | generally “de novo” * | ** variable according to the studies and case studies | gene LIS1 – 17p13.3 |
| Autismo X-Linked – gene NLGN4 - | generally “de novo” * | ** variable according to the studies and case studies | Xp22.33 |
| Sindrome di Axenfeld-Rieger | generally “de novo” * | ** variable according to the studies and case studies | geni PITX2/ FOXC1 – 4q25-q26 |
| Sex-determining region Y | generally “de novo” * | ** variable according to the studies and case studies | gene SRY – Yp11.3 |
| Sindrome di Beckwith-Wiedemann | generally “de novo” * | ** variable according to the studies and case studies | 11p15.5 |
| Sindrome di Potocki-Shaffer - | generally “de novo” * | ** variable according to the studies and case studies | 11p11.2 |
| Sindrome di Prader Willi /Angelman Syndrome – | generally “de novo” * | ** variable according to the studies and case studies | 15q11-q13 |
| Sindrome Cat eye | generally “de novo” * | ** variable according to the studies and case studies | geni CECR1; CECR5; CECR6;22q11 |
| Sindrome di Rieger | generally “de novo” * | ** variable according to the studies and case studies | 14q25-q26 |
| Sindrome di Charcot-Marie-Tooth disease type 1 | generally “de novo” * | ** variable according to the studies and case studies | 17p11.2 |
| Sindrome di Charcot-Marie-Tooth X-linked | generally “de novo” * | ** variable according to the studies and case studies | 1 Xq13.1 |
| Sindrome di Rubinstein-Taybi | generally “de novo” * | ** variable according to the studies and case studies | 16p13.3 |
| Sindrome di Saethre-Chotzen | generally “de novo” * | ** variable according to the studies and case studies | 7p21 |
| Displasia Cleidocraniale | generally “de novo” * | ** variable according to the studies and case studies | 6p21 |
| Sindrome di Cornelia de Lange | generally “de novo” * | ** variable according to the studies and case studies | 5p13.1 |
| Sindrome di Simpson-Golabi-Behmel | generally “de novo” * | ** variable according to the studies and case studies | Xq26 |
| Cri du Chat Syndrome | generally “de novo” * | ** variable according to the studies and case studies | 5p15.2 |
| Sindrome di Smith-Magenis | generally “de novo” * | ** variable according to the studies and case studies | 17p11.2 |
| Sindrome di Dandy-Walker | generally “de novo” * | ** variable according to the studies and case studies | gene ZIC1-ZIC4 – 3q24 |
| Sindrome di Sotos | generally “de novo” * | ** variable according to the studies and case studies | 5q35 |
| Sindrome di DiGeorge | generally “de novo” * | ** variable according to the studies and case studies | 22q11.2 |
| Sindrome di DiGeorge regione 2 | generally “de novo” * | ** variable according to the studies and case studies | 10p14-p13 |
| Split-Hand/Foot Malformation 3 | generally “de novo” * | ** variable according to the studies and case studies | 10q24 |
| Split-Hand/Foot Malformation 4 | generally “de novo” * | ** variable according to the studies and case studies | 3q27 |
| Split-Hand/Foot Malformation 5 | generally “de novo” * | ** variable according to the studies and case studies | 2q31 |
| Malattia di Alzheimer ad esordio precoce | generally “de novo” * | ** variable according to the studies and case studies | 21q21 |
| Sinpolidattilia/Sindattilia Tipe II | generally “de novo” * | ** variable according to the studies and case studies | 2q31-q32 |
| Sindrome di Feingold | generally “de novo” * | ** variable according to the studies and case studies | 2p24.1 |
| Sindrome di Greig | generally “de novo” * | ** variable according to the studies and case studies | 7p13 |
| Sindrome di Van der Woude | generally “de novo” * | ** variable according to the studies and case studies | 1q32-q41 |
| Sindrome di WAGR | generally “de novo” * | ** variable according to the studies and case studies | 11p13 |
| Oloprosencefalia tipo 1 | generally “de novo” * | ** variable according to the studies and case studies | 21q22.3 |
| Oloprosencefalia tipo 2 | generally “de novo” * | ** variable according to the studies and case studies | 2p21 |
| Oloprosencefalia tipo 3 | generally “de novo” * | ** variable according to the studies and case studies | 7q36 |
| Sindrome di Williams | generally “de novo” * | ** variable according to the studies and case studies | 7q11.23 |
| Sindrome di Wolf-Hirschhorn - | generally “de novo” * | ** variable according to the studies and case studies | gene WHSC – 4p16.3 |
| Lissencefalia X-Linked - | generally “de novo” * | ** variable according to the studies and case studies | Xq22.3-q23 |
| Discondrosteosi di Leri Weill - | generally “de novo” * | ** variable according to the studies and case studies | Xpter-p22.32 |
| Sindrome di Kallmann tipo 1 | generally “de novo” * | ** variable according to the studies and case studies | gene KAL1 – Xp22.3 |
| Sindrome di Kallmann tipo 2 – | generally “de novo” * | ** variable according to the studies and case studies | gene KAL2 – 8p11.2-p11.1 |
| Sindrome delezione terminale | generally “de novo” * | ** variable according to the studies and case studies | 14q (van Karnebeek) |
| Delezione 1p36 | generally “de novo” * | ** variable according to the studies and case studies | (monosomia 1p36) |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 2q37 |
| Sindrome di Langer Giedion | generally “de novo” * | ** variable according to the studies and case studies | 8q24.11-q24.13 |
| Sindrome Trico-Rino-Falangea | generally “de novo” * | ** variable according to the studies and case studies | 8q24.1 |
| Sindrome di Jacobsen | generally “de novo” * | ** variable according to the studies and case studies | 11q23.1-q24.1 |
| Sindrome Brachio-Oto-Renale | generally “de novo” * | ** variable according to the studies and case studies | 8q13.3 |
| Displasia Campomelica | generally “de novo” * | ** variable according to the studies and case studies | 17q24.3 |
| Sindrome di Cornelia De Lange - | generally “de novo” * | ** variable according to the studies and case studies | 5p13.2 |
| Sindrome di Johanson-Blizzard | generally “de novo” * | ** variable according to the studies and case studies | 15q15.2 |
| Sindrome di Joubert tipo 4 | generally “de novo” * | ** variable according to the studies and case studies | 2q13 |
| Leucodistrofia metacromatica | generally “de novo” * | ** variable according to the studies and case studies | 22q13.33 |
| Sindrome di Buschke-Ollendorff | generally “de novo” * | ** variable according to the studies and case studies | 12q14.2-q15 |
| Sindrome da microdelezione | generally “de novo” * | ** variable according to the studies and case studies | 1q21.1 |
| Sindrome da microdelezione | generally “de novo” * | ** variable according to the studies and case studies | 3q29 |
| Sindrome da microdelezione | generally “de novo” * | ** variable according to the studies and case studies | 15q13.3 |
| Sindrome da microdelezione | generally “de novo” * | ** variable according to the studies and case studies | 17q21.31 |
| Sindrome da delezione distale | generally “de novo” * | ** variable according to the studies and case studies | 22q11.2 |
| Aniridia | generally “de novo” * | ** variable according to the studies and case studies | 11p13 |
| Sindrome di Charge | generally “de novo” * | ** variable according to the studies and case studies | 8q12.2 |
| Sindrome microftalmica tipo 7 | generally “de novo” * | ** variable according to the studies and case studies | Xp22.2 |
| Sindrome del Rene Policistico Infantile Severa | generally “de novo” * | ** variable according to the studies and case studies | 16p13.3 |
| Simpolidattilia tipo 1 | generally “de novo” * | ** variable according to the studies and case studies | 2q31.1 |
| Sindrome Velocardiofaciale | generally “de novo” * | ** variable according to the studies and case studies | 22q11.21 |
| Tumore di Wilms | generally “de novo” * | ** variable according to the studies and case studies | 11p13 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 1q21.1 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 1q41q42 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 2p15p16.1 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 2p21 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 2q23.1 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 2q24 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 2q32 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 3q13 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 3q29 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 4q21 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 5q14.3 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 5q31.3 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 6p22 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 6q16 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 7q11.23 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 7q31 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 8p11.2 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 8p23.1 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 8q13 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 8q21.11 |
| Monosomia | Generally “de novo” * | ** variable according to the studies and case studies | 8q24.1 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 9q22.3 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 10p11.21p12.31 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 10q22.3q23.3 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 11p13 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 12p12.1 |
| Monosomia | generally “de novo” * | ** variable according to the studies and case studies | 12q15q21.1 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 13q32 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 14q11.2 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 14q22q23 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 14q22-q23 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 15q11.2 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 15q13.3 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 16p11.2 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 16p11.2p12.2 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 16q24.3 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 17p13.3 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 17q21.31 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 17q23.1q23.2 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 19p13.12 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 19q13.1 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 20p12.3 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 20q13.33 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 21q22.11q22.12 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 21q22.13q22.2 |
| Monosomia | generally”de novo” * | ** variable according to the studies and case studies | 22q11.2 distale |
| Dup(1) | generally “de novo” * | ** variable according to the studies and case studies | q21.1 |
| Dup(2) | generally “de novo” * | ** variable according to the studies and case studies | (q23.1) |
| Dup(2) | generally “de novo” * | ** variable according to the studies and case studies | (q31.1) |
| Dup(3) | generally “de novo” * | ** variable according to the studies and case studies | (q26) |
| 5 Dup(5) | generally “de novo” * | ** variable according to the studies and case studies | (q35) |
| Dup(7) | generally “de novo” * | ** variable according to the studies and case studies | (p22.1) |
| 6 Dup(8) | generally “de novo” * | ** variable according to the studies and case studies | (p23.1) |
| Dup(10) | generally “de novo” * | ** variable according to the studies and case studies | (q22.3q23.3) |
| Dup(14) | generally “de novo” * | ** variable according to the studies and case studies | (q11.2) |
| Dup(11) | generally “de novo” * | ** variable according to the studies and case studies | p(15.4) |
| Dup(15) | generally “de novo” * | ** variable according to the studies and case studies | (q11q13) |
| Dup(16) | generally “de novo” * | ** variable according to the studies and case studies | (p13.11) |
| Dup(17) | generally “de novo” * | ** variable according to the studies and case studies | (p13.3) |
| Dup(17) | generally “de novo” * | ** variable according to the studies and case studies | (q21.31) |
| Dup(22) | generally “de novo” * | ** variable according to the studies and case studies | (q11.2) distale |
| Dup(X) | generally “de novo” * | ** variable according to the studies and case studies | (p22.13p22.2) |
| Dup(X) | generally “de novo” * | ** variable according to the studies and case studies | (q12-q13.3) |
| Dup(X) | generally “de novo” * | ** variable according to the studies and case studies | (q27.3q28) |
| Duplicazione | generally “de novo” * | ** variable according to the studies and case studies | 22q11.2 |
| Del(1) | generally “de novo” * | ** variable according to the studies and case studies | (p36) |
| Del(1) | generally “de novo” * | ** variable according to the studies and case studies | (q21) |
| Del(2) | generally “de novo” * | ** variable according to the studies and case studies | (q23.1) |
| Del(2) | generally “de novo” * | ** variable according to the studies and case studies | (q32) |
| Del(2) | generally “de novo” * | ** variable according to the studies and case studies | (q37) |
| Del(3) | generally “de novo” * | ** variable according to the studies and case studies | (q13) |
| Del(3) | generally “de novo” * | ** variable according to the studies and case studies | (q29) |
| Del(4) | generally “de novo” * | ** variable according to the studies and case studies | (q21) |
| Del(5) | generally “de novo” * | ** variable according to the studies and case studies | (q14.3) |
| Del(6) | generally “de novo” * | ** variable according to the studies and case studies | (p22) |
| Del(6) | generally “de novo” * | ** variable according to the studies and case studies | (q16) |
| Del(6) | generally “de novo” * | ** variable according to the studies and case studies | (q25) |
| Del(7) | generally “de novo” * | ** variable according to the studies and case studies | (q31) |
| Del(12) | generally “de novo” * | ** variable according to the studies and case studies | (p12.1) |
| Del(13) | generally “de novo” * | ** variable according to the studies and case studies | (q14) |
| Del(13) | generally “de novo” * | ** variable according to the studies and case studies | (q34) |
| Del(14) | generally “de novo” * | ** variable according to the studies and case studies | (q12) |
| Del(15) | generally “de novo” * | ** variable according to the studies and case studies | (q14) |
| Del(16) | generally “de novo” * | ** variable according to the studies and case studies | (p11.2) |
| Del(16) | generally “de novo” * | ** variable according to the studies and case studies | (q24.3) |
| Del(16) | generally “de novo” * | ** variable according to the studies and case studies | (p11.2p12.2) |
| Del(16) | generally “de novo” * | ** variable according to the studies and case studies | (p13.11) |
| Del(17) | generally “de novo” * | ** variable according to the studies and case studies | (q21.31) |
| Del(17) | generally “de novo” * | ** variable according to the studies and case studies | (q11) |
| Del(17) | generally “de novo” * | ** variable according to the studies and case studies | (q12) |
| Del(17) | generally”de novo” * | ** variable according to the studies and case studies | (q23.1q23.2) |
| 6 Del(19) | generally “de novo” * | ** variable according to the studies and case studies | (p13.12) |
| Del(19) | generally “de novo” * | ** variable according to the studies and case studies | (q13.11) |
| Del(20) | generally “de novo” * | ** variable according to the studies and case studies | (p12.3) |
| Del(20) | generally “de novo” * | ** variable according to the studies and case studies | (p13) |
| 1 Del(20) | generally “de novo” * | ** variable according to the studies and case studies | (q13.33) |
| Duplicazione | generally “de novo” * | ** variable according to the studies and case studies | Xp22 |
| Del(21) | generally “de novo” * | ** variable according to the studies and case studies | (q22.13q22.2) |
| Del(X) | generally “de novo” * | ** variable according to the studies and case studies | (p21) |
| Del(X) | generally “de novo” * | ** variable according to the studies and case studies | (p23) |
| Duplicazione Xq telomerica | generally “de novo” * | ** variable according to the studies and case studies | |
| Duplicazione Xp22 | generally “de novo” * | ** variable according to the studies and case studies | |
| * In general it is a genetic abnormality to “surprise” that happens in a normal family without familiarity. | |||
| ** For most of these diseases and not ‘note the exact incidence it varies, from 1/1000 up to very rare conditions. | |||