Term

Explanation

Antenatal

A period during pregnancy and before birth of the child.

Ancestry

A person's ethnic origin or descent.

Atelectasis

A collapsed portion of the lung which does not contain air. This can be caused by excessive accumulations of mucous secretions, inhaled foreign bodies or bronchial cancers.

Autosomal recessive genetic disorders

A genetic trait or disorder which appears only when an individual inherits a pair of chromosomes, each containing the gene for the trait. One chromosome of the pair comes from the father and the other from the mother. Autosomal recessive disorders can occur only if both parents are carriers of the trait.

Bronchiectasis

Persistent and progressive dilation of bronchi (branches from the trachea which lead to the lungs) often as a consequence of inflammatory disease (lung infections).

Carrier (in genetics)

An individual who possesses one copy of a mutated allele that causes disease only when two copies are present (an autosomal recessive genetic disorders). A carrier is not affected by the disease, but two carriers can produce a child with the disease.

Chronic vaso‐occlusion

Blockage of arteries marked by long duration, by frequent recurrence over a long time, and often by slowly progressing deterioration; having a slow progressive course of indefinite duration.

Cystic fibrosis transmembrane conductance regulator (CFTR)

A protein, involved in the movement of salt across cell membranes, which is lacking or does not function normally in people with cystic fibrosis.

Diabetes mellitus

A pancreatic disorder that causes abnormal insulin production. This affects the body's ability to utilise sugar and other food substances and is usually treated by diet modification (restricted sugar intake) and use of insulin.

DNA (Deoxyribonucleic acid)

The chemical coding for a gene. DNA determines the 'genetic message' within each cell, organ, and organism.

Electrophoresis

A method of separating particles relative to a fluid under the influence of a spatially uniform electric field.

Ethnicity

Common characteristics of people of a distinct national, racial or cultural group.

Gangliosides

A group of glysolipid cells that are found in the brain.

Gene

The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.

Globin chains

Blood proteins found in red blood cells that are combined to make haemoglobin. They are α or β globin chains.

Haemoglobin A

Normal adult haemoglobin.

Haemoglobin F

A kind of haemoglobin usually present during fetal (intrauterine) life, which has a different chemical structure from normal adult haemoglobin. After birth, the fetal haemoglobin in the red blood cells is gradually replaced by the adult type of haemoglobin, this process is usually complete during the first six months of life.

Haemolysis

Breaking of the red cell membrane causing release of haemoglobin.

Haemolytic anaemia

A condition where there are fewer red blood cells than average circulating in the blood stream due to breaking of the red cell membrane causing release of haemoglobin.

Hexosaminidase A isozyme

A protein found in the nerve cells of the brain which does not function normally in people with Tay‐Sachs disease.

High performance liquid chromatography (HPLC)

A method that is used to separate a mixture of compounds to identify and quantify the individual components of the mixture.

Hypothyroidism

Results from a deficiency of thyroid hormone, and is characterized by a decrease in basal metabolic rate and by tiredness, lethargy and sensitivity to cold.

In vitro fertilization

A technique by which eggs are collected from a woman and fertilised with a man's sperm outside the body. Usually one or two resulting embryos are then transferred to the womb. If one or more of them implants successfully in the womb it results in a pregnancy.

In vivo

Inside the living body.

Mutation

A change or alteration of the DNA sequence within a gene.

Nasal epithelium

The tissue that covers and lines the surface of the nose.

Obstructive azoospermia

A condition where there is no measurable sperm detected in the semen due to ejaculatory dysfunction or ductal blockage. This condition can occur in people with cystic fibrosis.

Pancreatic exocrine insufficiency

A condition characterized by deficiency of the pancreatic enzymes, resulting in the inability to digest food properly, or maldigestion.

Salt‐loss syndromes

A condition found in people with cystic fibrosis where there is loss of salt resulting in depletion of salt in the body.

Septicaemia

A condition characterized by the widespread destruction of tissues due to absorption of disease containing bacteria or their toxins from the bloodstream.

Database or resource

Date searched

Search strategy

Ovid MEDLINE(R) Daily Update

Ovid MEDLINE(R) In‐Process & Other Non‐Indexed Citations and Ovid MEDLINE(R)

1970 to 16 November 2017

1. exp Thalassemia/

2. thalass?emia.ti,ab,ot,hw.

3. ((erythroblastic or erythro‐blastic or hypochromic or cooley$ or mediterranean) adj2 an?emia$).ti,ab,ot,hw.

4. (h?emoglobin adj2 disease$).ti,ab,ot,hw.

5. exp Hemoglobinopathies/

6. hereditary persistence of f?etal h?emoglobin.ti,ab,ot,hw.

7. (h?emoglobin adj2 (H or F or D or E) adj2 disease$).ti,ab,ot,hw.

8. 1 or 2 or 3 or 4 or 5 or 6 or 7

9. exp Anemia, Sickle Cell/

10. Sickle Cell Disease.ti,ab,ot,hw.

11. (sickle cell adj2 (an?emia$ or disease$ or disorder$)).ti,ab,ot,hw.

12. (h?emoglobin adj2 (S or C or SC)).ti,ab,ot,hw.

13. ((drepanocytosis or drepanocytic) adj2 an?emia).ti,ab,ot,hw.

14. 9 or 10 or 11 or 12 or 13

15. Cystic Fibrosis/

16. cystic fibrosis.ti,ab,ot,hw.

17. CF.ti,ab.

18. mucoviscidosis.ti,ab,ot,hw.

19. (fibrocystic adj3 disease$).ti,ab,ot,hw.

20. (pancreas$ adj2 (fibrosis or cystic disease$)).ti,ab,ot,hw.

21. 15 or 16 or 17 or 18 or 19 or 20

22. Tay‐Sachs Disease/

23. Tay Sachs.ti,ab,ot,hw.

24. ((familial or infantile) adj2 amaurotic idiocy).ti,ab,ot,hw.

25. TSD.ti,ab.

26. (GM2 adj2 gangliosidosis).ti,ab,ot,hw.

27. 22 or 23 or 24 or 25 or 26

28. Heterozygote/

29. trait$.ti,ab,ot,hw.

30. carrier$.ti,ab,ot,hw.

31. 28 or 29 or 30

32. 8 or 14 or 21 or 27 or 31

33. (Preconcept$ or Pre‐concept$ or Prepregnan$ or Pre‐pregnan$).ti,ab,ot,hw.

34. Maternal Health Services/

35. ((pregnan$ or conception or family) adj3 plan$).ti,ab,ot,hw.

36. (Pre‐marital or Premarital or Pre‐marriage or Premarriage).ti,ab,ot,hw.

37. ((Preconcept$ or Pre‐concept$ or Prepregnan$ or Pre‐pregnan$) adj2 (care or counsel$ or advice$ or advise or inform$)).ti,ab,ot,hw.

38. ((Pre‐marital or Premarital or Pre‐marriage or Premarriage) adj2 (care or counsel$ or advice$ or advise or inform$)).ti,ab,ot,hw.

39. 33 or 34 or 35 or 36 or 37 or 38

40. (carrier$ adj3 (screen$ or test$ or counsel$ or assess$ or detect$ or diagnos$ or inform$ or analys$)).ti,ab,ot,hw.

41. (genetic$ adj3 (screen$ or test$ or counsel$ or assess$ or detect$ or diagnos$ or inform$ or analys$)).ti,ab,ot,hw.

42. (heterozygot$ adj3 (screen$ or test$ or counsel$ or assess$ or detect$ or diagnos$ or inform$ or analys$)).ti,ab,ot,hw.

43. Genetic Services/

44. family history.ti,ab,ot,hw.

45. 40 or 41 or 42 or 43 or 44

46. (h?emoglobin adj2 electrophoresis).ti,ab,ot,hw.

47. Cystic Fibrosis Transmembrane Conductance Regulator/ or sweat test.ti,ab,ot,hw.

48. ((CFTR gene mutation$ or CFTR mutation$ or Hexoaminidase‐A or Hexoaminidase A or HEX‐A or H?emoglobin F or H?emoglobin A2 or H?emoglobin S) adj3 (test$ or analys$ or screen$ or profil$)).ti,ab,ot,hw.

49. 46 or 47 or 48

50. 32 or 45 or 49

51. 39 and 50

52. exp animals/ not humans.sh.

53. 51 not 52

54. limit 53 to yr="1970‐Current"

PsycINFO

1970 to 16 November 2017

1. thalassemia.ti,ab,ot,hw.

2. thalassaemia.ti,ab,ot,hw.

3. ((erythroblastic or erythro‐blastic or hypochromic or cooley* or mediterranean) adj2 anaemia*).ti,ab,ot,hw.

4. ((erythroblastic or erythro‐blastic or hypochromic or cooley* or mediterranean) adj2 anemia*).ti,ab,ot,hw.

5. ((haemoglobin or hemoglobin) adj2 disease*).ti,ab,ot,hw.

6. ((haemoglobin or hemoglobin) adj2 (H or F or D or E) adj2 disease*).ti,ab,ot,hw.

7. 1 or 2 or 3 or 4 or 5 or 6

8. Sickle Cell Disease/

9. (sickle cell adj2 (anaemia* or disease* or disorder*)).ti,ab,ot,hw.

10. ((haemoglobin or hemoglobin) adj2 (S or C or SC)).ti,ab,ot,hw.

11. 8 or 9 or 10

12. Cystic Fibrosis/

13. cystic fibrosis.ti,ab,ot,hw.

14. CF.ti,ab.

15. mucoviscidosis.ti,ab,ot,hw.

16. (fibrocystic adj3 disease*).ti,ab,ot,hw.

17. 12 or 13 or 14 or 15 or 16

18. Tay Sachs Disease/

19. Tay Sachs.ti,ab,ot,hw.

20. ((familial or infantile) adj2 amaurotic idiocy).ti,ab,ot,hw.

21. TSD.ti,ab.

22. (GM2 adj2 gangliosidosis).ti,ab,ot,hw.

23. 18 or 19 or 20 or 21 or 22

24. heterozygote.ti,ab,ot,hw.

25. trait*.ti,ab,ot,hw.

26. carrier*.ti,ab,ot,hw.

27. 24 or 25 or 26

28. 7 or 11 or 17 or 23 or 27

29. (Preconcept* or Pre‐concept* or Prepregnan* or Pre‐pregnan*).ti,ab,ot,hw.

30. (Pre‐marital or Premarital or Pre‐marriage or Premarriage).ti,ab,ot,hw.

31. maternal health service*.ti,ab,ot,hw.

32. maternal care.ti,ab,ot,hw.

33. ((pregnan* or conception or family) adj3 plan*).ti,ab,ot,hw.

34. ((Preconcept* or Pre‐concept* or Prepregnan* or Pre‐pregnan*) adj2 (care or counsel* or advice* or advise or inform*)).ti,ab,ot,hw.

35. ((Pre‐marital or Premarital or Pre‐marriage or Premarriage) adj2 (care or counsel* or advice* or advise or inform*)).ti,ab,ot,hw.

36. 29 or 30 or 31 or 32 or 33 or 34 or 35

37. (genetic* adj3 (screen* or test* or counsel* or assess* or detect* or diagnos* or inform* or analys*)).ti,ab,ot,hw.

38. (carrier* adj3 (screen* or test* or counsel* or assess* or detect* or diagnos* or analys*)).ti,ab,ot,hw.

39. (heterozygot* adj3 (screen* or test* or counsel* or assess* or detect* or diagnos* or analys*)).ti,ab,ot,hw.

40. genetic service*.ti,ab,ot,hw.

41. family history.ti,ab,ot,hw.

42. 37 or 38 or 39 or 40 or 41

43. ((haemoglobin or hemoglobin) adj2 electrophoresis).mp. [mp=title, abstract, heading word, table of contents, key concepts, original title, tests & measures]

44. Cystic Fibrosis Transmembrane Conductance Regulator/ or sweat test.mp.

45. 43 or 44

46. 28 or 42 or 45

47. 36 and 46

48. exp Animals/

49. human.mp.

50. 48 and 49

51. 48 not 50

52. 47 not 51

53. limit 52 to yr="1970‐Current"

Embase

1974 to 16 November 2017

1. exp thalassemia/cn, di, ep, et, pc [Congenital Disorder, Diagnosis, Epidemiology, Etiology, Prevention]

2. exp delta thalassemia/ or exp beta thalassemia/ or exp thalassemia major/ or exp alpha thalassemia/ or exp thalassemia intermedia/ or exp sickle cell beta thalassemia/ or exp thalassemia minor/

3. thalass?emia.ti,ab,ot,hw.

4. ((erythroblastic or erythro‐blastic or hypochromic) adj2 an?mia$).ti,ab,ot,hw.

5. (h?emoglobin adj2 disease$).ti,ab,ot,hw.

6. hemoglobinopathy/cn, di, ep, et, pc [Congenital Disorder, Diagnosis, Epidemiology, Etiology, Prevention]

7. hereditary persistence of f?etal h?emoglobin.ti,ab,ot.

8. (h?emoglobin adj2 (h or d or e) adj2 disease$).ti,ab,ot,hw.

9. 1 or 2 or 3 or 4 or 5 or 6 or 7 or 8

10. exp sickle cell anemia/cn, di, ep, et, pc [Congenital Disorder, Diagnosis, Epidemiology, Etiology, Prevention]

11. sickle cell disease.ti,ab,ot,hw.

12. (h?emoglobin adj2 (s or c)).ti,ab,ot,hw.

13. 10 or 11 or 12

14. exp cystic fibrosis/cn, di, ep, et, pc [Congenital Disorder, Diagnosis, Epidemiology, Etiology, Prevention]

15. cystic fibrosis.ti,ab,ot,hw.

16. CF.ti,ab.

17. 14 or 15 or 16

18. exp Tay Sachs disease/cn, di, ep, et, pc [Congenital Disorder, Diagnosis, Epidemiology, Etiology, Prevention]

19. Tay Sachs.ti,ab,ot,hw.

20. ((familial or infantile) adj2 amaurotic idiocy).ti,ab,ot,hw.

21. TSD.ti,ab.

22. 18 or 19 or 20 or 21

23. exp heterozygote/ or exp heterozygote detection/

24. trait$.ti,ab,ot,hw.

25. carrier$.ti,ab,ot,hw.

26. 23 or 24 or 25

27. 9 or 13 or 17 or 22 or 26

28. (Preconcept$ or Pre‐concept$ or Prepregnan$ or Pre‐pregnan$).ti,ab,ot,hw.

29. (Pre‐marital or Premarital or Pre‐marriage or Premarriage).ti,ab,ot,hw.

30. ((pregnan$ or conception or family) adj3 plan$).ti,ab,ot,hw.

31. ((Preconcept$ or Pre‐concept$ or Prepregnan$ or Pre‐pregnan$) adj2 (care or counsel$ or advice$ or advise or inform$)).ti,ab,ot,hw.

32. ((Pre‐marital or Premarital or Pre‐marriage or Premarriage) adj2 (care or counsel$ or advice$ or advise or inform$)).ti,ab,ot,hw.

33. 28 or 29 or 30 or 31 or 32

34. (carrier$ adj3 (screen$ or test$ or counsel$ or assess$ or detect$ or diagnos$ or inform$ or analys$)).ti,ab,ot,hw.

35. (genetic$ adj3 (screen$ or test$ or counsel$ or assess$ or detect$ or diagnos$ or inform$ or analys$)).ti,ab,ot,hw.

36. (heterozygot$ adj3 (screen$ or test$ or counsel$ or assess$ or detect$ or diagnos$ or inform$ or analys$)).ti,ab,ot,hw.

37. Genetic Service$.ti,ab,ot,hw.

38. family history.ti,ab.

39. 34 or 35 or 36 or 37 or 38

40. (h?emoglobin adj2 electrophoresis).ti,ab,ot,hw.

41. Cystic Fibrosis Transmembrane Conductance Regulator.ti,ab,ot,hw.

42. sweat test.ti,ab.

43. ((CFTR gene mutation$ or CFTR mutation$ or Hexoaminidase‐A or Hexoaminidase A or HEX‐A or H?emoglobin F or H?emoglobin A2 or H?emoglobin S) adj3 (test$ or analys$ or screen$ or profil$)).ti,ab,ot,hw.

44. 40 or 41 or 42 or 43

45. 27 or 39 or 44

46. 33 and 45

47. animal/

48. human/

49. 47 and 48

50. 47 not 49

51. 46 not 50

52. limit 51 to yr="1970‐Current"

CINAHL

1970 to 16 November 2017

SI. (MH "Thalassemia") OR (MH "beta‐Thalassemia") OR (MH "alpha‐Thalassemia") OR (MH "delta‐Thalassemia")

S2. (MH "Hemoglobinopathies")

S3. (MM "Anemia, Hypochromic")

S4. (MH "Anemia, Sickle Cell") OR (MH "Sickle Cell Trait")

S5. (MH "Cystic Fibrosis") OR "mucoviscidosis"

S6. (MH "Tay‐Sachs Disease")

S7. (MH "Prepregnancy Care")

S8. (MH "Genetic Screening")

S9. (MH "Family Assessment") OR (MH "Family History")

S10. "hemoglobin electrophoresis"

S11. "cystic fibrosis transmembrane conductance regulator"

S12. "sweat test"

S13. S1 OR S2 OR S3 OR S4 OR S5 OR S6 OR S8 OR S9 OR S10 OR S11 OR S12

S14. S7 AND S13

S15. Limiters ‐ Published Date from: 19700101‐current

National Institutes of Health database (clinicaltrials.gov/)

2005 to 12 November 2017

preconception OR prepregnancy OR premarital

Clinical Trials Search Portal of the World Health Organization (apps.who.int/trialsearch/)

2004 to 12 November 2017

preconcep* OR prepregnan* OR premarital

Current Controlled Trials in the metaRegister of controlled clinical trials (www.controlled‐trials.com/)

2004 to 12 November 2017

"preconception OR prepregnancy OR premarital"